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CYP27 / CYP27A1
cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27 / CYP27A1 is 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.
| Gene Name: | cytochrome P450, family 27, subfamily A, polypeptide 1 |
| Family/Subfamily: | Cytochrome P450 , not assigned-Cytochrome P450 |
| Synonyms: | CYP27A1, Cytochrome P450 27, CTX, Cytochrome P-450C27/25, CP27, Vitamin D(3) 25-hydroxylase, CYP27, Sterol 27-hydroxylase |
| Target Sequences: | NM_000784 AAA52142.1 Q02318 |
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