CYP11B2 wt Allele

**Semantic type:** Gene or Genome

**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.

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