Details for: TTR

Gene ID: 7276

Symbol: TTR

Ensembl ID: ENSG00000118271

Description: transthyretin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 64.6942
    Cell Significance Index: 170.6600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 9.9880
    Cell Significance Index: 1140.1200
  • Cell Name: PP cell (CL0000696)
    Fold Change: 3.6828
    Cell Significance Index: 37.4400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 3.3194
    Cell Significance Index: 658.7500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.9285
    Cell Significance Index: 49.3300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.5684
    Cell Significance Index: 37.9100
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.6366
    Cell Significance Index: 9.4300
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.8576
    Cell Significance Index: 3.2300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.8554
    Cell Significance Index: 13.5700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8009
    Cell Significance Index: 723.1300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6769
    Cell Significance Index: 128.8200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6626
    Cell Significance Index: 41.7600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.6267
    Cell Significance Index: 15.1800
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.4646
    Cell Significance Index: 3.5700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4618
    Cell Significance Index: 50.2300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4591
    Cell Significance Index: 74.6700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4170
    Cell Significance Index: 8.8800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3278
    Cell Significance Index: 19.6800
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: 0.2812
    Cell Significance Index: 2.6100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1994
    Cell Significance Index: 13.7900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1947
    Cell Significance Index: 19.2600
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.1303
    Cell Significance Index: 2.2500
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.1014
    Cell Significance Index: 1.0000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0805
    Cell Significance Index: 14.5200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.0333
    Cell Significance Index: 7.0200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0228
    Cell Significance Index: 3.9000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0154
    Cell Significance Index: 1.7900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0129
    Cell Significance Index: 9.5400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0071
    Cell Significance Index: 0.0600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0065
    Cell Significance Index: 0.2300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0003
    Cell Significance Index: 0.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0014
    Cell Significance Index: -0.0400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0083
    Cell Significance Index: -15.2600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0089
    Cell Significance Index: -16.8500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0102
    Cell Significance Index: -15.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0110
    Cell Significance Index: -6.1900
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.0111
    Cell Significance Index: -0.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0116
    Cell Significance Index: -15.7600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0129
    Cell Significance Index: -0.2800
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.0130
    Cell Significance Index: -0.1400
  • Cell Name: colon endothelial cell (CL1001572)
    Fold Change: -0.0131
    Cell Significance Index: -0.0100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0223
    Cell Significance Index: -2.5600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0243
    Cell Significance Index: -18.3900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0308
    Cell Significance Index: -1.3400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0311
    Cell Significance Index: -19.7400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0328
    Cell Significance Index: -17.8900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0337
    Cell Significance Index: -9.6900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0385
    Cell Significance Index: -13.8000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0401
    Cell Significance Index: -18.2100
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: -0.0473
    Cell Significance Index: -0.3600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0530
    Cell Significance Index: -1.3600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0605
    Cell Significance Index: -6.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0641
    Cell Significance Index: -2.9100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0707
    Cell Significance Index: -14.1900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0730
    Cell Significance Index: -3.6900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0778
    Cell Significance Index: -3.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0902
    Cell Significance Index: -11.0900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0994
    Cell Significance Index: -14.4600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0998
    Cell Significance Index: -1.1900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1227
    Cell Significance Index: -16.8500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1251
    Cell Significance Index: -1.4200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1372
    Cell Significance Index: -1.4200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1446
    Cell Significance Index: -9.7200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1461
    Cell Significance Index: -3.0300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1712
    Cell Significance Index: -2.5800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1783
    Cell Significance Index: -18.5700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1815
    Cell Significance Index: -11.1300
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: -0.1862
    Cell Significance Index: -1.4700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1973
    Cell Significance Index: -25.2900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2224
    Cell Significance Index: -3.7400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2246
    Cell Significance Index: -11.7900
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.2408
    Cell Significance Index: -3.3400
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.2458
    Cell Significance Index: -2.7500
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.2502
    Cell Significance Index: -1.3100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2520
    Cell Significance Index: -13.0900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2635
    Cell Significance Index: -16.2000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2695
    Cell Significance Index: -21.3500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2772
    Cell Significance Index: -7.9100
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.2830
    Cell Significance Index: -2.6900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2985
    Cell Significance Index: -9.5600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3005
    Cell Significance Index: -23.0600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.3023
    Cell Significance Index: -2.3300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3216
    Cell Significance Index: -11.2700
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.3374
    Cell Significance Index: -4.0900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3461
    Cell Significance Index: -19.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3487
    Cell Significance Index: -16.2600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3626
    Cell Significance Index: -17.0400
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.3776
    Cell Significance Index: -5.2800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3875
    Cell Significance Index: -17.1400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4056
    Cell Significance Index: -10.1400
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: -0.4101
    Cell Significance Index: -5.1200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.4195
    Cell Significance Index: -8.5400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4395
    Cell Significance Index: -14.3900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4471
    Cell Significance Index: -11.9800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4513
    Cell Significance Index: -17.0900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4556
    Cell Significance Index: -7.6300
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.4567
    Cell Significance Index: -3.3200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4627
    Cell Significance Index: -14.7400
  • Cell Name: plasmablast (CL0000980)
    Fold Change: -0.4633
    Cell Significance Index: -4.3000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4658
    Cell Significance Index: -17.1000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** TTR is a 55-kDa protein composed of two identical subunits, each consisting of 125 amino acids. It is synthesized in the endoplasmic reticulum and secreted into the bloodstream, where it binds to thyroid hormones (T3 and T4) and retinol. TTR has a high affinity for thyroid hormones, with a Kd value of 1.3-2.5 nM, and is able to bind to both T3 and T4. It also has a lower affinity for retinol, with a Kd value of 1.4-2.5 μM. TTR is a monomeric protein, meaning it exists as a single molecule, and is able to bind to thyroid hormones and retinol in a 1:1 ratio. **Pathways and Functions** TTR plays a critical role in the regulation of thyroid hormone and vitamin A metabolism. Its primary function is to bind to thyroid hormones and transport them to peripheral tissues, where they can exert their effects on metabolism, growth, and development. TTR also participates in the transport of retinol, which is essential for vision, immune function, and cellular differentiation. In addition to its metabolic functions, TTR has been implicated in various cellular processes, including: * Immune system function: TTR has been shown to interact with immune cells, including neutrophils and macrophages, and plays a role in the regulation of immune responses. * Signal transduction: TTR has been shown to interact with various signaling molecules, including cytokines and growth factors, and plays a role in the regulation of cellular signaling pathways. * Metabolism: TTR participates in the metabolism of thyroid hormones and retinol, and plays a role in the regulation of metabolic pathways. **Clinical Significance** Mutations in the TTR gene have been associated with several diseases, including: * Familial amyloid polyneuropathy (FAP): A rare genetic disorder characterized by the deposition of amyloid fibrils in peripheral nerves and organs, leading to progressive neuropathy and other systemic complications. * Wild-type transthyretin-mediated amyloidosis (ATTR-A): A condition characterized by the deposition of amyloid fibrils in peripheral nerves and organs, leading to progressive neuropathy and other systemic complications. * Transthyretin-related amyloidosis (ATTR-Tg): A condition characterized by the deposition of amyloid fibrils in peripheral nerves and organs, leading to progressive neuropathy and other systemic complications. In addition to its association with amyloidosis, TTR has also been implicated in other diseases, including: * Thyroid disorders: Mutations in the TTR gene have been associated with thyroid disorders, including hypothyroidism and hyperthyroidism. * Cancer: TTR has been shown to interact with various cancer cells, including breast cancer cells, and plays a role in the regulation of cancer cell growth and survival. In conclusion, TTR is a multifunctional transport protein that plays a critical role in the regulation of thyroid hormone and vitamin A metabolism. Its association with various diseases, including familial amyloid polyneuropathy, wild-type transthyretin-mediated amyloidosis, and transthyretin-related amyloidosis, highlights the importance of this protein in human health and disease. Further research is needed to fully understand the mechanisms by which TTR regulates metabolic pathways and interacts with various signaling molecules and immune cells.

Genular Protein ID: 243927524

Symbol: TTHY_HUMAN

Name: Transthyretin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 6093805

Title: Cloning and sequence analysis of cDNA for human prealbumin.

PubMed ID: 6093805

DOI: 10.1016/0006-291x(84)91590-0

PubMed ID: 2990465

Title: Localization of the human prealbumin gene to chromosome 18.

PubMed ID: 2990465

DOI: 10.1016/0006-291x(85)91956-4

PubMed ID: 4054629

Title: Structure of the chromosomal gene for human serum prealbumin.

PubMed ID: 4054629

DOI: 10.1016/0378-1119(85)90272-0

PubMed ID: 2995367

Title: Structure of the human prealbumin gene.

PubMed ID: 2995367

DOI: 10.1016/s0021-9258(17)39013-0

PubMed ID: 3818577

Title: Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.

PubMed ID: 3818577

DOI: 10.1093/oxfordjournals.jbchem.a121826

PubMed ID: 3022108

Title: Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy.

PubMed ID: 3022108

PubMed ID: 2015890

Title: The transthyretin cDNA sequence is normal in transthyretin-derived senile systemic amyloidosis.

PubMed ID: 2015890

DOI: 10.1016/0014-5793(91)80387-i

PubMed ID: 1666289

Title: Transthyretin (prealbumin) gene in human primary hepatic cancer.

PubMed ID: 1666289

PubMed ID: 10328977

Title: Transthyretin localization in cultured and native human retinal pigment epithelium.

PubMed ID: 10328977

DOI: 10.1006/exer.1998.0646

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 4607556

Title: The amino acid sequence of human plasma prealbumin.

PubMed ID: 4607556

DOI: 10.1016/s0021-9258(19)42128-5

PubMed ID: 6300852

Title: Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin.

PubMed ID: 6300852

DOI: 10.1073/pnas.80.2.539

PubMed ID: 6651852

Title: Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type).

PubMed ID: 6651852

DOI: 10.1016/s0006-291x(83)80224-1

PubMed ID: 6583672

Title: Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.

PubMed ID: 6583672

DOI: 10.1073/pnas.81.3.694

PubMed ID: 3135807

Title: Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin.

PubMed ID: 3135807

DOI: 10.1016/0006-291x(88)90188-x

PubMed ID: 1517749

Title: Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy.

PubMed ID: 1517749

DOI: 10.1016/0022-510x(92)90048-p

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 1932142

Title: A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy.

PubMed ID: 1932142

DOI: 10.1016/0925-4439(91)90033-6

PubMed ID: 7923855

Title: Two transthyretin mutations (Glu42Gly, His90Asn) in an Italian family with amyloidosis.

PubMed ID: 7923855

DOI: 10.1111/j.1399-0004.1994.tb04030.x

PubMed ID: 4044580

Title: Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat.

PubMed ID: 4044580

DOI: 10.1016/s0021-9258(17)39100-7

PubMed ID: 1979335

Title: A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.

PubMed ID: 1979335

DOI: 10.1172/jci114938

PubMed ID: 7474944

Title: Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis.

PubMed ID: 7474944

PubMed ID: 201845

Title: Protein-DNA and protein-hormone interactions in prealbumin: a model of the thyroid hormone nuclear receptor?

PubMed ID: 201845

DOI: 10.1038/268115a0

PubMed ID: 3714052

Title: Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award.

PubMed ID: 3714052

DOI: 10.1212/wnl.36.7.900

PubMed ID: 14760718

Title: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.

PubMed ID: 14760718

DOI: 10.1002/pmic.200300556

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 18221012

Title: Detection of a gamma-carboxy-glutamate as novel post-translational modification of human transthyretin.

PubMed ID: 18221012

DOI: 10.2174/092986608783330297

PubMed ID: 19167329

Title: Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.

PubMed ID: 19167329

DOI: 10.1016/j.cell.2008.11.047

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 4216640

Title: Structure of human plasma prealbumin at 2.5-A resolution. A preliminary report on the polypeptide chain conformation, quaternary structure and thyroxine binding.

PubMed ID: 4216640

DOI: 10.1016/0022-2836(74)90291-5

PubMed ID: 671542

Title: Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A.

PubMed ID: 671542

DOI: 10.1016/0022-2836(78)90368-6

PubMed ID: 8382610

Title: Structure of Met30 variant of transthyretin and its amyloidogenic implications.

PubMed ID: 8382610

DOI: 10.1002/j.1460-2075.1993.tb05707.x

PubMed ID: 8428915

Title: The X-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30-->Met variant to 1.7-A resolution.

PubMed ID: 8428915

DOI: 10.1016/s0021-9258(18)53792-3

PubMed ID: 7754382

Title: Structure of a complex of two plasma proteins: transthyretin and retinol-binding protein.

PubMed ID: 7754382

DOI: 10.1126/science.7754382

PubMed ID: 9818054

Title: Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation.

PubMed ID: 9818054

DOI: 10.3109/13506129809003843

PubMed ID: 9733771

Title: The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils.

PubMed ID: 9733771

DOI: 10.1074/jbc.273.38.24715

PubMed ID: 9789022

Title: Inhibiting transthyretin conformational changes that lead to amyloid fibril formation.

PubMed ID: 9789022

DOI: 10.1073/pnas.95.22.12956

PubMed ID: 10052934

Title: The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP.

PubMed ID: 10052934

DOI: 10.1021/bi982291i

PubMed ID: 10986125

Title: A comparative analysis of 23 structures of the amyloidogenic protein transthyretin.

PubMed ID: 10986125

DOI: 10.1006/jmbi.2000.4078

PubMed ID: 10742177

Title: Rational design of potent human transthyretin amyloid disease inhibitors.

PubMed ID: 10742177

DOI: 10.1038/74082

PubMed ID: 11418763

Title: Structure of a new polymorphic monoclinic form of human transthyretin at 3 A resolution reveals a mixed complex between unliganded and T4-bound tetramers of TTR.

PubMed ID: 11418763

DOI: 10.1107/s0907444901006047

PubMed ID: 11560492

Title: An engineered transthyretin monomer that is nonamyloidogenic, unless it is partially denatured.

PubMed ID: 11560492

DOI: 10.1021/bi011194d

PubMed ID: 11243784

Title: Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution.

PubMed ID: 11243784

DOI: 10.1006/jmbi.2000.4415

PubMed ID: 12403615

Title: Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.

PubMed ID: 12403615

DOI: 10.1021/bi025800w

PubMed ID: 12820260

Title: Benzoxazoles as transthyretin amyloid fibril inhibitors: synthesis, evaluation, and mechanism of action.

PubMed ID: 12820260

DOI: 10.1002/anie.200351179

PubMed ID: 14583036

Title: Synthesis and characterization of potent bivalent amyloidosis inhibitors that bind prior to transthyretin tetramerization.

PubMed ID: 14583036

DOI: 10.1021/ja030294z

PubMed ID: 14711308

Title: Diflunisal analogues stabilize the native state of transthyretin. Potent inhibition of amyloidogenesis.

PubMed ID: 14711308

DOI: 10.1021/jm030347n

PubMed ID: 15735344

Title: X-ray crystallographic studies of two transthyretin variants: further insights into amyloidogenesis.

PubMed ID: 15735344

DOI: 10.1107/s0907444904034316

PubMed ID: 15981995

Title: The effect of iodide and chloride on transthyretin structure and stability.

PubMed ID: 15981995

DOI: 10.1021/bi050249z

PubMed ID: 16185074

Title: Cys114-linked dimers of transthyretin are compatible with amyloid formation.

PubMed ID: 16185074

DOI: 10.1021/bi050795s

PubMed ID: 15826192

Title: Kinetic stabilization of an oligomeric protein by a single ligand binding event.

PubMed ID: 15826192

DOI: 10.1021/ja042929f

PubMed ID: 15769474

Title: Kinetic stabilization of the native state by protein engineering: implications for inhibition of transthyretin amyloidogenesis.

PubMed ID: 15769474

DOI: 10.1016/j.jmb.2005.01.050

PubMed ID: 16627944

Title: The binding of 2,4-dinitrophenol to wild-type and amyloidogenic transthyretin.

PubMed ID: 16627944

DOI: 10.1107/s0907444906006962

PubMed ID: 17175208

Title: Structural basis for the protective role of sulfite against transthyretin amyloid formation.

PubMed ID: 17175208

DOI: 10.1016/j.bbapap.2006.10.015

PubMed ID: 17196219

Title: Acidic pH-induced conformational changes in amyloidogenic mutant transthyretin.

PubMed ID: 17196219

DOI: 10.1016/j.jmb.2006.11.076

PubMed ID: 18155178

Title: Iodination of salicylic acid improves its binding to transthyretin.

PubMed ID: 18155178

DOI: 10.1016/j.bbapap.2007.11.014

PubMed ID: 19021760

Title: Structural and mutational analyses of protein-protein interactions between transthyretin and retinol-binding protein.

PubMed ID: 19021760

DOI: 10.1111/j.1742-4658.2008.06705.x

PubMed ID: 18095641

Title: Biochemical and structural evaluation of highly selective 2-arylbenzoxazole-based transthyretin amyloidogenesis inhibitors.

PubMed ID: 18095641

DOI: 10.1021/jm0708735

PubMed ID: 18811132

Title: Toward optimization of the linker substructure common to transthyretin amyloidogenesis inhibitors using biochemical and structural studies.

PubMed ID: 18811132

DOI: 10.1021/jm800435s

PubMed ID: 18662699

Title: Structural insight into pH-induced conformational changes within the native human transthyretin tetramer.

PubMed ID: 18662699

DOI: 10.1016/j.jmb.2008.07.029

PubMed ID: 7599630

Title: Transthyretin mutations in health and disease.

PubMed ID: 7599630

DOI: 10.1002/humu.1380050302

PubMed ID: 6487335

Title: Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin.

PubMed ID: 6487335

DOI: 10.1016/s0006-291x(84)80222-3

PubMed ID: 3722385

Title: Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.

PubMed ID: 3722385

DOI: 10.1172/jci112573

PubMed ID: 3675594

Title: Identification and characterization of a human transthyretin variant.

PubMed ID: 3675594

DOI: 10.1016/0006-291x(87)91135-1

PubMed ID: 2891727

Title: Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.

PubMed ID: 2891727

DOI: 10.1172/jci113293

PubMed ID: 2161654

Title: A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.

PubMed ID: 2161654

DOI: 10.1016/0006-291x(90)91445-x

PubMed ID: 2363717

Title: Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).

PubMed ID: 2363717

DOI: 10.1016/0006-291x(90)92011-n

PubMed ID: 1877623

Title: Biochemical and clinical characterization of prealbuminCHICAGO: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis.

PubMed ID: 1877623

DOI: 10.1002/ajmg.1320390415

PubMed ID: 1656975

Title: New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis.

PubMed ID: 1656975

DOI: 10.1016/s0006-291x(05)81304-x

PubMed ID: 1997217

Title: A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.

PubMed ID: 1997217

DOI: 10.1111/j.1399-0004.1991.tb02979.x

PubMed ID: 2046936

Title: Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.

PubMed ID: 2046936

DOI: 10.1212/wnl.41.6.893

PubMed ID: 1570831

Title: A new transthyretin mutation associated with amyloid cardiomyopathy.

PubMed ID: 1570831

PubMed ID: 1734866

Title: A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.

PubMed ID: 1734866

DOI: 10.1016/0006-291x(92)91763-g

PubMed ID: 1520326

Title: A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.

PubMed ID: 1520326

DOI: 10.1016/s0006-291x(05)81506-2

PubMed ID: 1520336

Title: Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.

PubMed ID: 1520336

DOI: 10.1016/s0006-291x(05)81516-5

PubMed ID: 1544214

Title: Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.

PubMed ID: 1544214

DOI: 10.1111/j.1399-0004.1992.tb03635.x

PubMed ID: 1351039

Title: Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.

PubMed ID: 1351039

DOI: 10.1007/bf00220559

PubMed ID: 1301926

Title: Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.

PubMed ID: 1301926

DOI: 10.1002/humu.1380010306

PubMed ID: 1362222

Title: A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.

PubMed ID: 1362222

DOI: 10.1136/jmg.29.12.888

PubMed ID: 1436517

Title: Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70.

PubMed ID: 1436517

DOI: 10.1212/wnl.42.11.2094

PubMed ID: 8352764

Title: A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.

PubMed ID: 8352764

DOI: 10.1006/bbrc.1993.1933

PubMed ID: 8038017

Title: Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.

PubMed ID: 8038017

DOI: 10.1136/hrt.70.2.111

PubMed ID: 8257997

Title: Transthyretin Ala-71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.

PubMed ID: 8257997

DOI: 10.1002/humu.1380020516

PubMed ID: 8095302

Title: A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.

PubMed ID: 8095302

DOI: 10.1136/jmg.30.2.120

PubMed ID: 8019560

Title: A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient 'SKO' with familial amyloidotic polyneuropathy.

PubMed ID: 8019560

DOI: 10.1002/humu.1380030313

PubMed ID: 8081397

Title: Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis.

PubMed ID: 8081397

DOI: 10.1002/humu.1380030414

PubMed ID: 8089102

Title: The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein.

PubMed ID: 8089102

DOI: 10.1016/s0021-9258(17)31527-2

PubMed ID: 7914929

Title: Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).

PubMed ID: 7914929

DOI: 10.1136/jmg.31.5.416

PubMed ID: 8133316

Title: Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).

PubMed ID: 8133316

DOI: 10.1016/0022-510x(94)90162-7

PubMed ID: 7910950

Title: Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro).

PubMed ID: 7910950

DOI: 10.1002/mus.880170611

PubMed ID: 8309582

Title: Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.

PubMed ID: 8309582

DOI: 10.1212/wnl.44.2.315

PubMed ID: 7655883

Title: Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.

PubMed ID: 7655883

DOI: 10.1093/brain/118.4.849

PubMed ID: 7850982

Title: A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.

PubMed ID: 7850982

DOI: 10.1161/01.cir.91.4.962

PubMed ID: 8579098

Title: Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G).

PubMed ID: 8579098

PubMed ID: 9066351

Title: Transthyretin amyloidosis: a new mutation associated with dementia.

PubMed ID: 9066351

DOI: 10.1002/ana.410410305

PubMed ID: 8990019

Title: Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.

PubMed ID: 8990019

DOI: 10.1002/(sici)1098-1004(1997)9:1<83::aid-humu19>3.0.co;2-l

PubMed ID: 9605286

Title: Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.

PubMed ID: 9605286

DOI: 10.1002/(sici)1096-8628(19980501)77:2<135::aid-ajmg5>3.0.co;2-r

PubMed ID: 10036587

Title: A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.

PubMed ID: 10036587

DOI: 10.3109/13506129809007302

PubMed ID: 10627135

Title: New transthyretin variants Ser 91 and Ser 116 associated with familial amyloidotic polyneuropathy.

PubMed ID: 10627135

DOI: 10.1002/(sici)1098-1004(1998)12:1<71::aid-humu15>3.0.co;2-7

Sequence Information:

  • Length: 147
  • Mass: 15887
  • Checksum: 3A6AEBCBBA56BC44
  • Sequence:
  • MASHRLLLLC LAGLVFVSEA GPTGTGESKC PLMVKVLDAV RGSPAINVAV HVFRKAADDT 
    WEPFASGKTS ESGELHGLTT EEEFVEGIYK VEIDTKSYWK ALGISPFHEH AEVVFTANDS 
    GPRRYTIAAL LSPYSYSTTA VVTNPKE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.