CYP11B1

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]

本基因编码了细胞色素P450超家族酶的成员。细胞色素P450蛋白属于单加氧酶，催化许多与药物代谢及胆固醇、类固醇及其他脂质的合成相关的反应。该蛋白定位于线粒体内膜，并参与肾上腺皮质中孕酮向皮质醇的转化。该基因中的突变会导致由于11-β-羟化酶缺乏引起的先天性肾上腺增生。对于该基因，已记录了编码不同异构体的转录变异。[由RefSeq提供，2008年7月]