SRD5A3 wt Allele

Preferred Label : SRD5A3 wt Allele;

NCIt synonyms : KRIZI; Steroid 5 Alpha-Reductase 3 wt Allele; SRD5A2L1; SRD5A2L; FLJ13352; CDG1Q; S5AR 3; CDG1P;

NCIt definition : Human SRD5A3 wild-type allele is located 4q12 and is approximately 27 kb in length. This allele, which encodes probable polyprenol reductase protein, is involved in both the metabolism of testosterone and the early steps of protein N-linked glycosylation. Mutations in this gene are associated with congenital disorder of glycosylation type Iq.;

GenBank Accession Number : NM_024592;

Details

Origin ID

C105162;

UMLS CUI

C3541279;

Automatic exact mappings (from CISMeF team)
- ALG11 alpha-1,2-mannosyltransferase [ORDO Gene]
- ALG11-CDG [ORDO Disease]
- Al-Gazali-Dattani syndrome [ORDO Disease]
- Congenital disorder of glycosylation, type ip [OMIM Phenotype]
- Congenital disorder of glycosylation, type iq [OMIM Phenotype]
- SRD5A3-CDG [ORDO Disease]
- Steroid 5-alpha-reductase 3 [OMIM gene]
- steroid 5 alpha-reductase 3 [ORDO Gene]
OMIM relation
- Steroid 5-alpha-reductase 3 [OMIM gene]
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_plays_role_in_process
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

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