Details for: ABCC6

Gene ID: 368

Symbol: ABCC6

Ensembl ID: ENSG00000091262

Description: ATP binding cassette subfamily C member 6

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 34.8452
    Cell Significance Index: -5.4200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 20.4618
    Cell Significance Index: -5.1900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 13.5876
    Cell Significance Index: -6.4200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 9.5600
    Cell Significance Index: -6.4200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 5.2006
    Cell Significance Index: 76.7600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.4203
    Cell Significance Index: -5.4500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.9128
    Cell Significance Index: 578.0500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.1431
    Cell Significance Index: 36.1000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1768
    Cell Significance Index: 116.4100
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 1.1590
    Cell Significance Index: 4.3700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0497
    Cell Significance Index: 63.0200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9768
    Cell Significance Index: 881.9900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.8986
    Cell Significance Index: 7.1800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8463
    Cell Significance Index: 92.0500
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.6714
    Cell Significance Index: 8.4600
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 0.6437
    Cell Significance Index: 0.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6370
    Cell Significance Index: 13.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6270
    Cell Significance Index: 101.9700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4968
    Cell Significance Index: 94.5500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4744
    Cell Significance Index: 32.8100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3682
    Cell Significance Index: 16.6900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3503
    Cell Significance Index: 242.2600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.3411
    Cell Significance Index: 4.8900
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.2014
    Cell Significance Index: 1.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1974
    Cell Significance Index: 5.2900
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.1802
    Cell Significance Index: 1.0800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.1799
    Cell Significance Index: 4.3900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1733
    Cell Significance Index: 2.9700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1656
    Cell Significance Index: 5.8200
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.1634
    Cell Significance Index: 2.1400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1563
    Cell Significance Index: 2.4800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.1305
    Cell Significance Index: 1.9600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1073
    Cell Significance Index: 18.3200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0998
    Cell Significance Index: 2.0700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0787
    Cell Significance Index: 11.4400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0725
    Cell Significance Index: 1.5500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.0546
    Cell Significance Index: 0.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0533
    Cell Significance Index: 10.6900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0515
    Cell Significance Index: 1.6500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0301
    Cell Significance Index: 0.6400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0258
    Cell Significance Index: 19.5600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0235
    Cell Significance Index: 8.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0220
    Cell Significance Index: 1.0300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0201
    Cell Significance Index: 1.5400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0161
    Cell Significance Index: 0.2700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0159
    Cell Significance Index: 0.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0141
    Cell Significance Index: 26.4600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0116
    Cell Significance Index: 6.3300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0106
    Cell Significance Index: 16.2900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0102
    Cell Significance Index: 18.8600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0095
    Cell Significance Index: 12.9300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0015
    Cell Significance Index: 1.0900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0001
    Cell Significance Index: -0.0100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0009
    Cell Significance Index: -0.6000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0015
    Cell Significance Index: -0.2700
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.0023
    Cell Significance Index: -0.0100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0026
    Cell Significance Index: -1.9100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0052
    Cell Significance Index: -2.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0066
    Cell Significance Index: -3.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0066
    Cell Significance Index: -0.1900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0081
    Cell Significance Index: -0.6000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0092
    Cell Significance Index: -4.0500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0103
    Cell Significance Index: -6.4500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0122
    Cell Significance Index: -0.3400
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0124
    Cell Significance Index: -0.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0131
    Cell Significance Index: -3.7700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0143
    Cell Significance Index: -0.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0148
    Cell Significance Index: -0.8300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0169
    Cell Significance Index: -0.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0172
    Cell Significance Index: -1.7600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0186
    Cell Significance Index: -2.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0241
    Cell Significance Index: -2.7600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0262
    Cell Significance Index: -5.5200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0282
    Cell Significance Index: -3.2900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0320
    Cell Significance Index: -3.9400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0351
    Cell Significance Index: -0.5300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0366
    Cell Significance Index: -0.7200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0376
    Cell Significance Index: -0.6300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0396
    Cell Significance Index: -0.9900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0423
    Cell Significance Index: -5.4600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0471
    Cell Significance Index: -4.9000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0496
    Cell Significance Index: -3.0400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0504
    Cell Significance Index: -4.0000
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0506
    Cell Significance Index: -0.3300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0516
    Cell Significance Index: -1.5200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0639
    Cell Significance Index: -2.8300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0656
    Cell Significance Index: -4.6400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0668
    Cell Significance Index: -2.5300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0685
    Cell Significance Index: -1.7600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0789
    Cell Significance Index: -4.1400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0905
    Cell Significance Index: -4.7000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.0932
    Cell Significance Index: -0.9900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1013
    Cell Significance Index: -3.5500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1043
    Cell Significance Index: -1.3000
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.1066
    Cell Significance Index: -1.7200
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1082
    Cell Significance Index: -0.9200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1094
    Cell Significance Index: -7.0600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1165
    Cell Significance Index: -3.7100
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1165
    Cell Significance Index: -1.4700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1209
    Cell Significance Index: -2.5300

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:** ABCC6 is a member of the ABC transporter family, characterized by its ability to transport a wide range of substrates across cellular membranes. The protein exhibits a high degree of sequence homology with other ABC transporters, including ABCC1-5. ABCC6 is specifically expressed in cells of the liver, kidney, and nervous system, where it plays a crucial role in maintaining calcium ion homeostasis. The protein has been shown to localize to the plasma membrane and endoplasmic reticulum membrane, where it regulates the transport of ions and small molecules. **Pathways and Functions:** ABCC6 is involved in various cellular processes, including: 1. **Calcium ion homeostasis:** ABCC6 regulates the transport of calcium ions across cellular membranes, maintaining the delicate balance of calcium homeostasis in the body. 2. **Inorganic diphosphate transport:** ABCC6 has been shown to transport inorganic diphosphate, a key regulator of phospholipid metabolism, across cellular membranes. 3. **Phosphate ion homeostasis:** The protein regulates the transport of phosphate ions, essential for various cellular processes, including DNA synthesis and energy metabolism. 4. **Leukotriene transport:** ABCC6 has been implicated in the transport of leukotrienes, potent pro-inflammatory mediators, across cellular membranes. 5. **ATP transport:** The protein regulates the transport of ATP across cellular membranes, maintaining the energy balance of the cell. **Clinical Significance:** Defects in the ABCC6 gene have been associated with a range of diseases, including: 1. **Progressive encephalopathies and nephropathies (PEPN):** A rare genetic disorder characterized by progressive neurological and renal dysfunction. 2. **Nephropathies:** ABCC6 mutations have been linked to various types of nephropathies, including focal segmental glomerulosclerosis (FSGS) and membranous nephropathy. 3. **Visual perception disorders:** Defects in ABCC6 have been associated with visual perception disorders, including photophobia and visual impairment. 4. **Mineralization disorders:** The protein has been implicated in the regulation of mineralization, and defects in ABCC6 have been linked to disorders of non-skeletal tissue mineralization. In conclusion, ABCC6 is a critical regulator of calcium ion homeostasis and plays a key role in various cellular processes. Defects in the ABCC6 gene have been associated with a range of diseases, highlighting the importance of this gene in maintaining cellular homeostasis and overall health. Further research is needed to fully elucidate the functions of ABCC6 and the mechanisms underlying its involvement in disease.

Genular Protein ID: 4209153301

Symbol: MRP6_HUMAN

Name: ATP-binding cassette sub-family C member 6

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10424734

Title: MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver.

PubMed ID: 10424734

DOI: 10.1038/sj.bjc.6690527

PubMed ID: 9892204

Title: Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.

PubMed ID: 9892204

PubMed ID: 11431746

Title: A cellular gene up-regulated by hepatitis B virus-encoded X antigen promotes hepatocellular growth and survival.

PubMed ID: 11431746

DOI: 10.1053/jhep.2001.25545

PubMed ID: 21318057

Title: Identification of a new splice variant of the human ABCC6 transporter.

PubMed ID: 21318057

DOI: 10.1155/2008/912478

PubMed ID: 10493829

Title: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.

PubMed ID: 10493829

DOI: 10.1006/geno.1999.5927

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

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: 12414644

Title: Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).

PubMed ID: 12414644

PubMed ID: 11880368

Title: Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

PubMed ID: 11880368

DOI: 10.1074/jbc.m110918200

PubMed ID: 11427982

Title: Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

PubMed ID: 11427982

DOI: 10.1016/s1471-4914(00)01869-4

PubMed ID: 12901863

Title: Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.

PubMed ID: 12901863

DOI: 10.1016/s0006-291x(03)01349-4

PubMed ID: 23625951

Title: ABCC6 is a basolateral plasma membrane protein.

PubMed ID: 23625951

DOI: 10.1161/circresaha.111.300194

PubMed ID: 23912081

Title: The hepatitis B x antigen anti-apoptotic effector URG7 is localized to the endoplasmic reticulum membrane.

PubMed ID: 23912081

DOI: 10.1016/j.febslet.2013.07.042

PubMed ID: 24277820

Title: ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.

PubMed ID: 24277820

DOI: 10.1073/pnas.1319582110

PubMed ID: 24969777

Title: ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report.

PubMed ID: 24969777

DOI: 10.1161/atvbaha.114.304017

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: 35307651

Title: Localization of Xenobiotic Transporters Expressed at the Human Blood-Testis Barrier.

PubMed ID: 35307651

DOI: 10.1124/dmd.121.000748

PubMed ID: 10913334

Title: Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

PubMed ID: 10913334

DOI: 10.1006/bbrc.2000.3101

PubMed ID: 11058917

Title: Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?

PubMed ID: 11058917

DOI: 10.1002/1098-1004(200011)16:5<449::aid-humu24>3.0.co;2-o

PubMed ID: 10954200

Title: Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.

PubMed ID: 10954200

DOI: 10.1007/s001090000114

PubMed ID: 10835642

Title: Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

PubMed ID: 10835642

DOI: 10.1038/76102

PubMed ID: 10811882

Title: Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

PubMed ID: 10811882

DOI: 10.1073/pnas.100041297

PubMed ID: 11536079

Title: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

PubMed ID: 11536079

DOI: 10.1086/323704

PubMed ID: 11702217

Title: Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.

PubMed ID: 11702217

DOI: 10.1007/s004390100582

PubMed ID: 11776382

Title: ABCC6 gene polymorphism associated with variation in plasma lipoproteins.

PubMed ID: 11776382

DOI: 10.1007/s100380170003

PubMed ID: 15098239

Title: Does autosomal dominant pseudoxanthoma elasticum exist?

PubMed ID: 15098239

DOI: 10.1002/ajmg.a.20632

PubMed ID: 15459974

Title: ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).

PubMed ID: 15459974

DOI: 10.1002/humu.9284

PubMed ID: 15086542

Title: Novel ABCC6 mutations in pseudoxanthoma elasticum.

PubMed ID: 15086542

DOI: 10.1111/j.0022-202x.2004.22312.x

PubMed ID: 16086317

Title: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

PubMed ID: 16086317

DOI: 10.1002/humu.20206

PubMed ID: 17617515

Title: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

PubMed ID: 17617515

DOI: 10.1136/jmg.2007.051094

PubMed ID: 18987736

Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PubMed ID: 18987736

DOI: 10.1038/nature07485

PubMed ID: 19339160

Title: Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.

PubMed ID: 19339160

DOI: 10.1016/j.jdermsci.2009.02.008

PubMed ID: 20034067

Title: An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

PubMed ID: 20034067

DOI: 10.1002/ajmg.a.33162

PubMed ID: 22209248

Title: Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

PubMed ID: 22209248

DOI: 10.1016/j.ajhg.2011.11.020

PubMed ID: 25615550

Title: Genetic heterogeneity of pseudoxanthoma elasticum: the chinese signature profile of ABCC6 and ENPP1 mutations.

PubMed ID: 25615550

DOI: 10.1038/jid.2015.10

PubMed ID: 30154241

Title: Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6 transporter.

PubMed ID: 30154241

DOI: 10.1074/jbc.ra118.004806

Sequence Information:

  • Length: 1503
  • Mass: 164906
  • Checksum: 2107BE13B1547B39
  • Sequence:
  • MAAPAEPCAG QGVWNQTEPE PAATSLLSLC FLRTAGVWVP PMYLWVLGPI YLLFIHHHGR 
    GYLRMSPLFK AKMVLGFALI VLCTSSVAVA LWKIQQGTPE APEFLIHPTV WLTTMSFAVF 
    LIHTERKKGV QSSGVLFGYW LLCFVLPATN AAQQASGAGF QSDPVRHLST YLCLSLVVAQ 
    FVLSCLADQP PFFPEDPQQS NPCPETGAAF PSKATFWWVS GLVWRGYRRP LRPKDLWSLG 
    RENSSEELVS RLEKEWMRNR SAARRHNKAI AFKRKGGSGM KAPETEPFLR QEGSQWRPLL 
    KAIWQVFHST FLLGTLSLII SDVFRFTVPK LLSLFLEFIG DPKPPAWKGY LLAVLMFLSA 
    CLQTLFEQQN MYRLKVLQMR LRSAITGLVY RKVLALSSGS RKASAVGDVV NLVSVDVQRL 
    TESVLYLNGL WLPLVWIVVC FVYLWQLLGP SALTAIAVFL SLLPLNFFIS KKRNHHQEEQ 
    MRQKDSRARL TSSILRNSKT IKFHGWEGAF LDRVLGIRGQ ELGALRTSGL LFSVSLVSFQ 
    VSTFLVALVV FAVHTLVAEN AMNAEKAFVT LTVLNILNKA QAFLPFSIHS LVQARVSFDR 
    LVTFLCLEEV DPGVVDSSSS GSAAGKDCIT IHSATFAWSQ ESPPCLHRIN LTVPQGCLLA 
    VVGPVGAGKS SLLSALLGEL SKVEGFVSIE GAVAYVPQEA WVQNTSVVEN VCFGQELDPP 
    WLERVLEACA LQPDVDSFPE GIHTSIGEQG MNLSGGQKQR LSLARAVYRK AAVYLLDDPL 
    AALDAHVGQH VFNQVIGPGG LLQGTTRILV THALHILPQA DWIIVLANGA IAEMGSYQEL 
    LQRKGALMCL LDQARQPGDR GEGETEPGTS TKDPRGTSAG RRPELRRERS IKSVPEKDRT 
    TSEAQTEVPL DDPDRAGWPA GKDSIQYGRV KATVHLAYLR AVGTPLCLYA LFLFLCQQVA 
    SFCRGYWLSL WADDPAVGGQ QTQAALRGGI FGLLGCLQAI GLFASMAAVL LGGARASRLL 
    FQRLLWDVVR SPISFFERTP IGHLLNRFSK ETDTVDVDIP DKLRSLLMYA FGLLEVSLVV 
    AVATPLATVA ILPLFLLYAG FQSLYVVSSC QLRRLESASY SSVCSHMAET FQGSTVVRAF 
    RTQAPFVAQN NARVDESQRI SFPRLVADRW LAANVELLGN GLVFAAATCA VLSKAHLSAG 
    LVGFSVSAAL QVTQTLQWVV RNWTDLENSI VSVERMQDYA WTPKEAPWRL PTCAAQPPWP 
    QGGQIEFRDF GLRYRPELPL AVQGVSFKIH AGEKVGIVGR TGAGKSSLAS GLLRLQEAAE 
    GGIWIDGVPI AHVGLHTLRS RISIIPQDPI LFPGSLRMNL DLLQEHSDEA IWAALETVQL 
    KALVASLPGQ LQYKCADRGE DLSVGQKQLL CLARALLRKT QILILDEATA AVDPGTELQM 
    QAMLGSWFAQ CTVLLIAHRL RSVMDCARVL VMDKGQVAES GSPAQLLAQK GLFYRLAQES 
    GLV

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.