CYP27A1, Official Symbol CYP27A1provided by HGNC Official Full Name cytochrome P450 family 27 subfamily A member 1provided by HGNC Primary source HGNC:HGNC:2605 See related Ensembl:ENSG00000135929 MIM:606530; AllianceGenome:HGNC:2605 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 CTX; CP27; CYP27 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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 101.4), small intestine (RPKM 27.6) and 16 other tissues See more Orthologs mouse all