UGT1A1 wt Allele

Preferred Label : UGT1A1 wt Allele;

NCIt synonyms : UGT1A; UGT1; UDPGT 1-1; GNT1; UDP glycosyltransferase gene 1; HUG-BR1; UGT1A1*1 Allele; UDPGT; UTG1A1 wt Allele; BILIQTL1; UDP Glucuronosyltransferase Family 1 Member A1 wt Allele; UDP Glycosyltransferase 1 Family, Polypeptide A1 Gene;

NCIt definition : Human UGT1A1 wild-type allele is located in the vicinity of 2q37 and is approximately 13 kb in length. This allele, which encodes UDP-glucuronosyltransferase 1-1 protein, plays a role in the transformation of small lipophilic molecules into water-soluble metabolites. Certain allelic variants of the UGT1A1 gene cause Crigler-Najjar syndrome type I, type II, Gilbert syndrome or transient familial neonatal hyperbilirubinemia.;

GenBank Accession Number : NM_000463;

Details

Origin ID

C51018;

UMLS CUI

C1706403;

OMIM relation
- Udp-glycosyltransferase 1 family, polypeptide a1 [OMIM gene]
See also inter- (CISMeF)
- Bilirubin, serum level of, quantitative trait locus 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q37 [NCIt concept]
gene_is_element_in_pathway
- Ascorbate and Aldarate Metabolism Pathway [NCIt concept]
- Drug Metabolism by Cytochrome P450 Pathway [NCIt concept]
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
- Metabolism of Xenobiotics by Cytochrome P450 Pathway [NCIt concept]
- Pentose and Glucuronate Interconversions Pathway [NCIt concept]
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
- Retinol Metabolism Pathway [NCIt concept]
- Starch and Sucrose Metabolism Pathway [NCIt concept]
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Estrogen Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients