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Cytochrome P450, family 27, subfamily A, polypeptide 1 (HGNC Symbol)
Entrez gene 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]
THUMBUP predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0005506 [iron ion binding] GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037 [heme binding] GO:0055114 [oxidation-reduction process]
