CYP11B2 wt Allele

Preferred Label : CYP11B2 wt Allele;

NCIt synonyms : P-450C18; P450Aldo; ALDOS; Cytochrome P450, Family 11, Subfamily B, Polypeptide 2 wt Allele; CYP11B; CYP11BL; CPN2;

NCIt definition : Human CYP11B2 wild-type allele is located within 8q21-q22 and is approximately 7 kb in length. This allele, which encodes cytochrome P450 11B2, mitochondrial protein, is involved in the synthesis of aldosterone and 18-oxocortisol. Functional mutations in the CYP11B2 gene are associated with congenital hypoaldosteronism, a disorder that is due to corticosterone methyloxidase type II deficiency. CYP11B1/CYP11B2 gene fusion causes glucocorticoid-remediable aldosteronism.;

GenBank Accession Number : NM_000498;

Details

Origin ID

C52320;

UMLS CUI

C1705588;

OMIM relation
- Cytochrome p450, subfamily xib, polypeptide 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Hypertension [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8q21-q22 [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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