CA21H antikoerper, CAH1 antikoerper, CPS1 antikoerper, CYP21 antikoerper, CYP21B antikoerper, P450c21B antikoerper, 21-OH antikoerper, 21OH antikoerper, 21OHA antikoerper, 21OHB antikoerper, CYP21OH-A antikoerper, Cyp21 antikoerper, Cyp21-ps1 antikoerper, Cyp21B antikoerper, Cyp21a2-ps antikoerper, Cyp21a2ps antikoerper, Oh21-1 antikoerper, Oh21-2 antikoerper, CYP21A antikoerper, 21-OHase antikoerper, cytochrome P450 family 21 subfamily A member 2 antikoerper, cytochrome P450, family 21, subfamily a, polypeptide 1 antikoerper, cytochrome P450c21 antikoerper, cytochrome P450, family 21, subfamily A, polypepide 2 antikoerper, cytochrome P450, family 21, subfamily A, polypeptide 2 antikoerper, steroid 21-hydroxylase-like antikoerper, CYP21A2 antikoerper, Cyp21a1 antikoerper, LOC101094596 antikoerper
Hintergrund
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.