AKR1C2 wt Allele

Preferred Label : AKR1C2 wt Allele;

NCIt synonyms : HAKRD; DD/BABP; MCDR2; HBAB; BABP; DD; DDH2; DD2; Aldo-Keto Reductase Family 1, Member C2 wt Allele; DD-2; SRXY8; Aldo-Keto Reductase Family 1, Member C2 (Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha Hydroxysteroid Dehydrogenase, Type III) Gene;

NCIt definition : Human AKR1C2 wild-type allele is located within 10p15-p14 and is approximately 30 kb in length. This allele, which encodes aldo-keto reductase family 1 member C2 protein, is involved in the metabolism of steroid hormones and the inactivation of androgens. Mutations in this gene are associated with 46XY sex reversal 8.;

NCIt note : Three transcript variants encoding two different isoforms have been found for this gene.;

GenBank Accession Number : NM_001354;

Détails

Origin ID

C105427;

UMLS CUI

C3538867;

OMIM relation
- Aldo-keto reductase family 1, member c2 [OMIM gene]
See also inter- (CISMeF)
- Developmental dysplasia of the hip 2 [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
- 10p15-p14 [NCIt concept]
gene_is_element_in_pathway
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Steroid Metabolic Process [NCIt concept]
- Xenobiotic Metabolism [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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