Details for: GALT

Gene ID: 2592

Symbol: GALT

Ensembl ID: ENSG00000213930

Description: galactose-1-phosphate uridylyltransferase

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: 110.0645
    Cell Significance Index: -17.1200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 56.5361
    Cell Significance Index: -14.3400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 37.4428
    Cell Significance Index: -19.2600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.5666
    Cell Significance Index: -17.9600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.1794
    Cell Significance Index: -13.8800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.6021
    Cell Significance Index: -18.1600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 4.5908
    Cell Significance Index: 75.6500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.5516
    Cell Significance Index: -13.9800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.4535
    Cell Significance Index: 236.4000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.3679
    Cell Significance Index: 82.1200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.3307
    Cell Significance Index: 1201.5300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1207
    Cell Significance Index: 121.9000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.8445
    Cell Significance Index: 44.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8298
    Cell Significance Index: 96.7000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.8083
    Cell Significance Index: 16.9200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6166
    Cell Significance Index: 42.6400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5491
    Cell Significance Index: 24.8900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5222
    Cell Significance Index: 15.0500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4733
    Cell Significance Index: 209.2600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4329
    Cell Significance Index: 86.8400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4041
    Cell Significance Index: 25.4700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3706
    Cell Significance Index: 47.5100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3595
    Cell Significance Index: 16.7600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3547
    Cell Significance Index: 25.0900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.3242
    Cell Significance Index: 5.4300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3163
    Cell Significance Index: 43.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3084
    Cell Significance Index: 110.6200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3047
    Cell Significance Index: 57.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2819
    Cell Significance Index: 50.8100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.2608
    Cell Significance Index: 2.0100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2587
    Cell Significance Index: 3.5300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2583
    Cell Significance Index: 16.6700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2399
    Cell Significance Index: 2.8600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.2394
    Cell Significance Index: 7.0300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2260
    Cell Significance Index: 27.7900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2214
    Cell Significance Index: 11.5000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2131
    Cell Significance Index: 5.8000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1938
    Cell Significance Index: 105.8200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1594
    Cell Significance Index: 5.5400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1487
    Cell Significance Index: 3.9100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1454
    Cell Significance Index: 6.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1415
    Cell Significance Index: 5.3600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1387
    Cell Significance Index: 13.7200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1269
    Cell Significance Index: 16.3900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1161
    Cell Significance Index: 8.9100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0906
    Cell Significance Index: 1.9300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0830
    Cell Significance Index: 1.0300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0630
    Cell Significance Index: 43.5500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0583
    Cell Significance Index: 6.8800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0498
    Cell Significance Index: 3.0600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0469
    Cell Significance Index: 0.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0258
    Cell Significance Index: 5.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0072
    Cell Significance Index: 13.5900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0033
    Cell Significance Index: 0.0500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0019
    Cell Significance Index: -0.0500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.0025
    Cell Significance Index: -0.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0029
    Cell Significance Index: -5.3000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0069
    Cell Significance Index: -10.6300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0096
    Cell Significance Index: -13.0000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0107
    Cell Significance Index: -7.8400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0112
    Cell Significance Index: -8.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0135
    Cell Significance Index: -8.5500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0165
    Cell Significance Index: -0.5300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0205
    Cell Significance Index: -15.2200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0267
    Cell Significance Index: -2.7300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0284
    Cell Significance Index: -16.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0313
    Cell Significance Index: -14.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0330
    Cell Significance Index: -1.1600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0376
    Cell Significance Index: -23.4700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0453
    Cell Significance Index: -2.2900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0470
    Cell Significance Index: -2.2100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0517
    Cell Significance Index: -5.9200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0605
    Cell Significance Index: -8.8000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0679
    Cell Significance Index: -11.6000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0775
    Cell Significance Index: -1.9800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0967
    Cell Significance Index: -20.3700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1044
    Cell Significance Index: -5.8600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1321
    Cell Significance Index: -3.8900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1325
    Cell Significance Index: -3.5500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1429
    Cell Significance Index: -1.8300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1675
    Cell Significance Index: -2.5100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1703
    Cell Significance Index: -12.6900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1706
    Cell Significance Index: -17.7600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2020
    Cell Significance Index: -16.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2043
    Cell Significance Index: -5.7100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2058
    Cell Significance Index: -2.1300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2143
    Cell Significance Index: -1.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2159
    Cell Significance Index: -14.5200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.2366
    Cell Significance Index: -3.3900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3128
    Cell Significance Index: -19.1800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.3133
    Cell Significance Index: -4.9700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3173
    Cell Significance Index: -6.7400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3232
    Cell Significance Index: -4.0300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3307
    Cell Significance Index: -7.9300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.3389
    Cell Significance Index: -3.8500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3448
    Cell Significance Index: -7.4700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.3550
    Cell Significance Index: -4.9800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3587
    Cell Significance Index: -12.5700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3770
    Cell Significance Index: -6.4600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3960
    Cell Significance Index: -16.2300

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:** GALT is a bifunctional enzyme that catalyzes the transfer of a uridine diphosphate (UDP) group from UDP-glucose to galactose-1-phosphate, generating UDP-galactose and galactose-1-phosphate. This reaction is a critical step in the galactose catabolic pathway, which ultimately leads to the production of lactate, glycerol, and CO2. GALT is a cytosolic enzyme, and its activity is regulated by various factors, including pH, temperature, and the presence of substrates and inhibitors. **Pathways and Functions:** GALT is involved in several metabolic pathways, including: 1. **Galactose catabolic process:** GALT catalyzes the transfer of a UDP group from UDP-glucose to galactose-1-phosphate, generating UDP-galactose and galactose-1-phosphate. 2. **UDP-glucose metabolic process:** GALT is involved in the regulation of UDP-glucose levels by catalyzing the transfer of a UDP group from UDP-glucose to galactose-1-phosphate. 3. **Golgi apparatus:** GALT is also involved in the regulation of glycosylation processes in the Golgi apparatus, where it catalyzes the transfer of a UDP group from UDP-glucose to galactose-1-phosphate. GALT plays a critical role in maintaining metabolic balance by regulating the levels of galactose-1-phosphate, which is a key intermediate in the galactose metabolism pathway. Defects in GALT can lead to the accumulation of toxic galactose-1-phosphate, resulting in various metabolic disorders. **Clinical Significance:** Defects in the GALT gene have been associated with several diseases, including: 1. **Galactosemia:** A condition characterized by the accumulation of toxic galactose-1-phosphate in the body, leading to metabolic disorders, liver damage, and other complications. 2. **Diseases of glycosylation:** GALT is also involved in the regulation of glycosylation processes, and defects in the GALT gene can lead to various diseases related to glycosylation, including cancer and other metabolic disorders. 3. **Neurological disorders:** GALT has also been implicated in the regulation of neuronal function and development, and defects in the GALT gene have been associated with various neurological disorders, including epilepsy and autism. In conclusion, GALT is a crucial enzyme involved in maintaining metabolic balance by regulating the levels of galactose-1-phosphate. Defects in the GALT gene have been associated with various diseases, including galactosemia, diseases of glycosylation, and neurological disorders. Further research is needed to fully understand the role of GALT in human health and disease.

Genular Protein ID: 994410342

Symbol: GALT_HUMAN

Name: Galactose-1-phosphate uridylyltransferase

UniProtKB Accession Codes:

P07902 B4E097 E7ET32 Q14355 Q14356 Q14357 Q14358 Q14359 Q14360 Q14361 Q14363 Q14364 Q14365 Q14369 Q14370 Q14371 Q14372 Q14373 Q14374 Q14375 Q14377 Q14378 Q14380 Q14381 Q14382 Q14383 Q14384 Q14385 Q14386 Q14387 Q14389 Q16766 Q53XK1 Q5VZ81 Q96BY1

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 17 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 36 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 3 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 1 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2840550

Title: Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

PubMed ID: 2840550

PubMed ID: 2233247

Title: Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

PubMed ID: 2233247

PubMed ID: 1427861

Title: The human galactose-1-phosphate uridyltransferase gene.

PubMed ID: 1427861

DOI: 10.1016/s0888-7543(05)80244-7

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 1301925

Title: Genetic basis of galactosemia.

PubMed ID: 1301925

DOI: 10.1002/humu.1380010303

PubMed ID: 22461411

Title: Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

PubMed ID: 22461411

DOI: 10.1002/humu.22093

PubMed ID: 27005423

Title: Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

PubMed ID: 27005423

DOI: 10.1093/hmg/ddw091

PubMed ID: 1897530

Title: Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

PubMed ID: 1897530

PubMed ID: 2011574

Title: Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

PubMed ID: 2011574

DOI: 10.1073/pnas.88.7.2633

PubMed ID: 1610789

Title: Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

PubMed ID: 1610789

DOI: 10.1021/bi00139a002

PubMed ID: 1373122

Title: Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

PubMed ID: 1373122

DOI: 10.1016/0888-7543(92)90453-y

PubMed ID: 8499924

Title: Molecular characterization of the H319Q galactosemia mutation.

PubMed ID: 8499924

DOI: 10.1093/hmg/2.3.325

PubMed ID: 8112740

Title: On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

PubMed ID: 8112740

DOI: 10.1007/bf00210604

PubMed ID: 7887416

Title: Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

PubMed ID: 7887416

PubMed ID: 7887417

Title: Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.

PubMed ID: 7887417

PubMed ID: 8598637

Title: Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

PubMed ID: 8598637

DOI: 10.1007/bf02436001

PubMed ID: 7550229

Title: Molecular characterization of galactosemia (type 1) mutations in Japanese.

PubMed ID: 7550229

DOI: 10.1002/humu.1380060108

PubMed ID: 8741038

Title: Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.

PubMed ID: 8741038

DOI: 10.1007/bf01955270

PubMed ID: 8956044

Title: Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

PubMed ID: 8956044

DOI: 10.1002/(sici)1098-1004(1996)8:4<369::aid-humu12>3.0.co;2-0

PubMed ID: 8869397

Title: Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

PubMed ID: 8869397

DOI: 10.1007/bf00878541

PubMed ID: 9222760

Title: Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

PubMed ID: 9222760

DOI: 10.1002/(sici)1098-1004(1997)10:1<49::aid-humu7>3.0.co;2-h

PubMed ID: 10220154

Title: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y.

PubMed ID: 10220154

DOI: 10.1002/(sici)1098-1004(1999)13:4<339::aid-humu18>3.0.co;2-s

PubMed ID: 10408771

Title: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene.

PubMed ID: 10408771

DOI: 10.1002/(sici)1098-1004(1999)13:6<417::aid-humu1>3.0.co;2-0

PubMed ID: 11754113

Title: Molecular analysis in newborns from Texas affected with galactosemia.

PubMed ID: 11754113

DOI: 10.1002/humu.9005

PubMed ID: 11919338

Title: Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.

PubMed ID: 11919338

DOI: 10.1203/00006450-200204000-00018

PubMed ID: 15841485

Title: Identification of novel mutations in classical galactosemia.

PubMed ID: 15841485

DOI: 10.1002/humu.9330

PubMed ID: 17041746

Title: Mutational spectrum of classical galactosaemia in Spain and Portugal.

PubMed ID: 17041746

DOI: 10.1007/s10545-006-0356-2

PubMed ID: 17876724

Title: Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

PubMed ID: 17876724

DOI: 10.1007/s10545-007-0461-x

PubMed ID: 18956253

Title: Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

PubMed ID: 18956253

DOI: 10.1007/s10545-008-0905-y

PubMed ID: 23022339

Title: Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications.

PubMed ID: 23022339

DOI: 10.1016/j.cca.2012.09.017

PubMed ID: 25614870

Title: Functional and structural impact of the most prevalent missense mutations in classic galactosemia.

PubMed ID: 25614870

DOI: 10.1002/mgg3.94

PubMed ID: 25592817

Title: Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

PubMed ID: 25592817

DOI: 10.1016/j.gene.2015.01.013

Sequence Information:

  • Length: 379
  • Mass: 43363
  • Checksum: 99945FF99C4F0066
  • Sequence:
    • MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ 
LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK 
SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC 
SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL 
VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW 
HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA 
LPEVHYHLGQ KDRETATIA

Genular Protein ID: 1448791045

Symbol: B2RAT6_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2RAT6

Database IDs:

ARBA 9 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 19 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 3 Gene3D 1 InterPro 5 KEGG 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 3 PROSITE 1 PeptideAtlas 1 Pfam 4 RefSeq 2 Rhea 1 RuleBase 1 SAM 1 SUPFAM 1 UniPathway 1

Sequence Information:

  • Length: 379
  • Mass: 43347
  • Checksum: 31508A78404F1DA7
  • Sequence:
    • MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ 
LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK 
SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC 
SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELPRKE RLVLTSEHWL 
VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW 
HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA 
LPEVHYHLGQ KDRETATIA

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.