Aliases for CYP46A1 Gene
External Ids for CYP46A1 Gene
Previous HGNC Symbols for CYP46A1 Gene
Previous GeneCards Identifiers for CYP46A1 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 protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
GeneCards Summary for CYP46A1 Gene
CYP46A1 (Cytochrome P450 Family 46 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP46A1 include Anus Disease and Bile Acid Synthesis Defect, Congenital, 2. Among its related pathways are Synthesis of bile acids and bile salts and Cytochrome P450 - arranged by substrate type. 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 CYP3A5.
UniProtKB/Swiss-Prot for CYP46A1 Gene
Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole.