CYP27B1 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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I.
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Protein Aliases: 1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase; 25(OH)D 1alpha-hydroxylase; 25-hydroxyvitamin D(3) 1-alpha-hydroxylase; 25-hydroxyvitamin D-1 alpha hydroxylase; 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial precursor (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D3 1-alpha-hydroxylase) (VD3 1A hydroxylase) (P450C1 alpha) (P450VD1-alpha); 25-hydroxyvitamin D3 1alpha-hydroxylase; 25-OHD-1 alpha-hydroxylase; Calcidiol 1-monooxygenase; CP2B; cy; CYP1; CYP1alpha; CYP27B; Cytochrome p450 27B1; cytochrome P450 40 (25-hydroxyvitamin D3 1 alpha-hydroxylase); cytochrome P450 subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase) polypeptide 1; Cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome P450, 27b1; cytochrome P450, 40 (25-hydroxyvitamin D3 1 alpha-hydroxylase); cytochrome P450, family 27, subfamily B, polypeptide 1; cytochrome P450, subfamily 27b, polypeptide 1; Cytochrome P450C1 alpha; Cytochrome P450VD1-alpha; mitochondrial; P450c1; P450C1 alpha; P450VD1-alpha; P450VD1alpha; PDDR; VD3 1A hydroxylase; VDD1; VDDR; VDDRI
Gene Aliases: CP2B; CYP1; CYP1ALPHA; CYP27B; CYP27B1; Cyp40; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR