Aliases for CYP51A1 Gene
External Ids for CYP51A1 Gene
Previous HGNC Symbols for CYP51A1 Gene
Previous GeneCards Identifiers for CYP51A1 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 protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
GeneCards Summary for CYP51A1 Gene
CYP51A1 (Cytochrome P450, Family 51, Subfamily A, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP51A1 include antley-bixler syndrome and chagas disease. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Metabolism. 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 CYP26C1.
UniProtKB/Swiss-Prot for CYP51A1 Gene
Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4-dimethyl cholesta-8,14,24-triene-3-beta-ol.