菜单 基因医生

该基因编码细胞色素P450酶超家族的一个成员细胞色素p450蛋白是一种单加氧酶，催化药物代谢和胆固醇、类固醇等脂类的合成。这种蛋白质定位于线粒体内膜，参与肾上腺皮质中孕酮向皮质醇的转化由于11β羟化酶缺乏，该基因突变导致先天性肾上腺增生。编码不同亚型的转录变体已经被发现[由RefSeq提供，2008年7月]
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 mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]