CYP11A1 wt Allele

Preferred Label : CYP11A1 wt Allele;

NCIt synonyms : CYP11A; P450SCC; Cytochrome P450, Family 11, Subfamily A, Polypeptide 1 wt Allele;

NCIt definition : Human CYP11A1 wild-type allele is located within 15q23-q24 and is approximately 30 kb in length. This allele, which encodes cytochrome P450 11A1, mitochondrial protein, is involved in steroid synthesis. Certain allelic variants of the CYP11A1 gene result in 17-alpha-hydroxylase/17,20-lyase deficiency. Defects in this gene cause congenital adrenal insufficiency and congenital lipoid adrenal hyperplasia.;

GenBank Accession Number : NM_000781;

Details

Origin ID

C52318;

UMLS CUI

C1707172;

OMIM relation
- Cytochrome p450, subfamily xia, polypeptide 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q23-q24 [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Steroid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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