Gene: CYP46A1

Alternate names for this Gene: CP46|CYP46

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.2

Description of this Gene: cytochrome P450 family 46 subfamily A member 1

Type of Gene: protein-coding

rs8003602 in CYP46A1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.