CYP21A2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP21A2 wild-type allele is located in the vicinity of 6p21.3 and is approximately 3 kb in length. This allele, which encodes cytochrome P450 21 protein, plays a role in the 21-hydroxylation of steroids. Gene conversion events involving the CYP21A2 gene and a nearby pseudogene putatively account for many cases of steroid 21-hydroxylase deficiency. CYP21A2 gene dysfunction causes congenital adrenal hyperplasia.

**Synonyms:** - CA21H - CAH1 - CPS1 - CYP1ALPHA - CYP21 - CYP21B - Cytochrome P450, Family 21, Subfamily A, Polypeptide 2 wt Allele - P450c21B