CYP7B1, Official Symbol CYP7B1provided by HGNC Official Full Name cytochrome P450 family 7 subfamily B member 1provided by HGNC Primary source HGNC:HGNC:2652 See related Ensembl:ENSG00000172817 MIM:603711; AllianceGenome:HGNC:2652 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 CP7B; CBAS3; SPG5A 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 of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in thyroid (RPKM 2.3), liver (RPKM 1.9) and 23 other tissues See more Orthologs mouse all