Gene: CYP7A1

Alternate names for this Gene: CP7A|CYP7|CYPVII

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 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q12.1

Description of this Gene: cytochrome P450 family 7 subfamily A member 1

Type of Gene: protein-coding

rs8192870 in CYP7A1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.