Enables cholesterol 7-alpha-monooxygenase activity. Involved in bile acid biosynthetic process; cellular response to glucose stimulus; and regulation of bile acid biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in intracellular membrane-bounded organelle. Biomarker of metabolic dysfunction-associated steatohepatitis.
RGD Description
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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]