Aliases for CYP7A1 Gene
External Ids for CYP7A1 Gene
Previous HGNC Symbols for CYP7A1 Gene
Previous GeneCards Identifiers for CYP7A1 Gene
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]
GeneCards Summary for CYP7A1 Gene
CYP7A1 (Cytochrome P450 Family 7 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP7A1 include hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency and extrahepatic cholestasis. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP8B1.
UniProtKB/Swiss-Prot for CYP7A1 Gene
Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis.