Aliases for CYP8B1 Gene
External Ids for CYP8B1 Gene
Previous GeneCards Identifiers for CYP8B1 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 conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
GeneCards Summary for CYP8B1 Gene
CYP8B1 (Cytochrome P450 Family 8 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP8B1 include Heart Defects, Congenital, And Other Congenital Anomalies and Cholestasis, Progressive Familial Intrahepatic, 2. Among its related pathways are Farnesoid X Receptor Pathway and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (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 PTGIS.
UniProtKB/Swiss-Prot Summary for CYP8B1 Gene
A cytochrome P450 monooxygenase involved in primary bile acid biosynthesis. Catalyzes the 12alpha-hydroxylation of 7alpha-hydroxy-4-cholesten-3-one, an intermediate metabolite in cholic acid biosynthesis (PubMed:10051404). Controls biliary balance of cholic acid and chenodeoxycholic acid, ultimately regulating the intestinal absorption of dietary lipids (By similarity). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH--hemoprotein reductase) (By similarity).