Aliases for CYP7B1 Gene
External Ids for CYP7B1 Gene
Previous HGNC Symbols for CYP7B1 Gene
Previous GeneCards Identifiers for CYP7B1 Gene
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]
GeneCards Summary for CYP7B1 Gene
CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP7B1 include spastic paraplegia 5a, autosomal recessive and bile acid synthesis defect, congenital, 3. Among its related pathways are Metabolism and cytochrome P450. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP8B1.