Preferred Label : CYP17A1 wt Allele;
NCIt synonyms : Cytochrome P450, Family 17, Subfamily A, Polypeptide 1 wt Allele; S17AH; P450C17; CPT7; CYP17;
NCIt definition : Human CYP17A1 wild-type allele is located in the vicinity of 10q24.3 and is approximately
7 kb in length. This allele, which encodes cytochrome P450 17A1 protein, plays a role
in the synthesis of progestins, mineralocorticoids, glucocorticoids, androgens, and
estrogens. Functional mutations in the CYP17A1 gene typically result in 17-alpha-hydroxylase
deficiency which, in turn, causes adrenal hyperplasia.;
GenBank Accession Number : NM_000102;
Origin ID : C52321;
UMLS CUI : C1706114;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
