基因名：
CYP21A2
产品别名：
CA21H； CAH1； CPS1； CYP21； CYP21B； P450c21B； CYP21A2； cytochrome P450 family 21 subfamily A member 2； cytochrome P450 family 21 subfamily A member 2； steroid 21-hydroxylase； 21-OHase； cytochrome P450 XXI； cytochrome P450, family 21, subfamily A, polypeptide 2； cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2； cytochrome P450-C21B； steroid 21 hydroxylase； steroid 21-monooxygenase； 细胞色素P450家族成员21B(CYP21A2)； 胆固醇21-羟化酶；
背景信息：
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].
