CYP27A1

Sterol 26-hydroxylase, mitochondrial ;
5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase ;
Cytochrome P-450C27/25 ;
Cytochrome P450 27 ;
Sterol 27-hydroxylase ;
Vitamin D ;
3 ;
25-hydroxylase ;

catalytic activity:5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol + NADPH + O(2) = (25R)-5-beta-cholestane-3-alpha,7-alpha,12-alpha,26-tetraol + NADP(+) + H(2)O.,cofactor:Heme group.,disease:Defects in CYP27A1 are the cause of cerebrotendinous xanthomatosis (CTX) [MIM:213700]. CTX is a rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.,function:Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity.,pathway:Hormone biosynthesis; cholecalciferol biosynthesis.,similarity:Belongs to the cytochrome P450 family.,

steroid metabolic process, cholesterol metabolic process, sterol metabolic process, oxidation reduction,

Mitochondrion inner membrane ; Peripheral membrane protein . Post-translationally targeted to mitochondria. All three of the receptor proteins in the TOM complex, TOMM70, TOMM20 and TOMM22 are required for the translocation across the mitochondrial outer membrane. After translocation into the matrix, associates with the inner membrane as a membrane extrinsic protein. .

Expressed in the neural retina and underlying retinal pigment epithelium (at protein level) (PubMed:21411718). Expressed in the gray and white matter of cerebellum (at protein level) (PubMed:28190002).