CA21H Protein, CAH1 Protein, CPS1 Protein, CYP21 Protein, CYP21B Protein, P450c21B Protein, 21-OH Protein, 21OH Protein, 21OHA Protein, 21OHB Protein, CYP21OH-A Protein, Cyp21 Protein, Cyp21-ps1 Protein, Cyp21B Protein, Cyp21a2-ps Protein, Cyp21a2ps Protein, Oh21-1 Protein, Oh21-2 Protein, CYP21A Protein, 21-OHase Protein, cytochrome P450 family 21 subfamily A member 2 Protein, cytochrome P450, family 21, subfamily a, polypeptide 1 Protein, cytochrome P450c21 Protein, cytochrome P450, family 21, subfamily A, polypepide 2 Protein, cytochrome P450, family 21, subfamily A, polypeptide 2 Protein, steroid 21-hydroxylase-like Protein, CYP21A2 Protein, Cyp21a1 Protein, LOC101094596 Protein
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Synonyms: CA21H,CAH1,CPS1,CYP21,CYP21B,MGC150536,MGC150537,P450c21B Gene Description: cytochrome P450, family 21, subfamily A, polypeptide 2 Gene Name: CYP21A2 Gene 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. GenBank: AK314651.1, BAG37212.1