CYP11B1 wt Allele

Preferred Label : CYP11B1 wt Allele;

NCIt synonyms : CPN1; P450C11; FHI; CYP11B; Cytochrome P450, Family 11, Subfamily B, Polypeptide 1 wt Allele; S11BH;

NCIt definition : Human CYP11B1 wild-type allele is located within 8q21 and is approximately 7 kb in length. This allele, which encodes cytochrome P450 11B1, mitochondrial protein, plays a role in the conversion of progesterone to cortisol in the adrenal cortex. Functional mutations in the CYP11B1 gene can result in 11-beta-hydroxylase deficiency which, in turn, causes congenital adrenal hyperplasia. CYP11B1/CYP11B2 gene fusion causes glucocorticoid-remediable aldosteronism.;

GenBank Accession Number : NM_000497;

Details

Origin ID

C52319;

UMLS CUI

C1705796;

OMIM relation
- Cytochrome p450, subfamily xib, polypeptide 1 [OMIM gene]
See also inter- (CISMeF)
- Fuchs heterochromic iridocyclitis [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Adrenal Cortical Hyperplasia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8q21 [NCIt concept]
gene_is_element_in_pathway
- Steroid Hormone Biosynthesis Pathway [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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