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。该基因编码的酶定位于内质网，代谢前致癌物，如多环芳烃和17β-雌二醇。这种基因的突变与原发性先天性青光眼有关，因此人们认为这种酶也代谢了一种参与眼睛发育的信号分子，可能是类固醇。[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. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]