Source:http://linkedlifedata.com/resource/umls/id/C1706115
NCI: 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.