Health / Medical Topics |
CYP21A2 wt Allele
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. (NCI Thesaurus)
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