CYP7A1, Official Symbol CYP7A1provided by HGNC Official Full Name cytochrome P450 family 7 subfamily A member 1provided by HGNC Primary source HGNC:HGNC:2651 See related Ensembl:ENSG00000167910 MIM:118455; AllianceGenome:HGNC:2651 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CP7A; CYP7; CYPVII 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. [provided by RefSeq, Feb 2010] Expression Restricted expression toward liver (RPKM 9.3) See more Orthologs mouse all