SRD5A2 wt Allele

Preferred Label : SRD5A2 wt Allele;

NCIt synonyms : Steroid-5-Alpha-Reductase, Alpha Polypeptide 2 (3-oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Alpha 2) wt Allele;

NCIt definition : Human SRD5A2 wild-type allele is located within 2p23 and is approximately 56 kb in length. This allele, which encodes 3-oxo-5-alpha-steroid 4-dehydrogenase 2 protein, plays a role in the oxidation of androgens into their corresponding 5-alpha-3-oxosteroids. Specific heritable defects in the SRD5A2 gene are the cause of pseudovaginal perineoscrotal hypospadias. A specific allelic variant of this gene is associated with an increased risk of prostate cancer.;

GenBank Accession Number : NM_000348;

Details

Origin ID

C50933;

UMLS CUI

C1709997;

OMIM relation
- Steroid 5-alpha-reductase 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_associated_with_disease
- Hypospadias [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p23 [NCIt concept]
gene_is_element_in_pathway
- Bile Acid Biosynthesis Pathway [NCIt concept]
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Androgen Metabolism Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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