CYP21A2, Official Symbol CYP21A2provided by HGNC Official Full Name cytochrome P450 family 21 subfamily A member 2provided by HGNC Primary source HGNC:HGNC:2600 See related Ensembl:ENSG00000231852 MIM:613815; AllianceGenome:HGNC:2600 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CAH1; CPS1; CA21H; CYP21; CYP21B; P450c21B Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward adrenal (RPKM 498.8) See more Orthologs mouse all