功能： catalytic activity:Calcidiol + NADPH + O(2) = calcitriol + NADP(+) + H(2)O.,cofactor:Heme group.,disease:Defects in CYP27B1 are a cause of vitamin D-dependent rickets type 1 (VDDR-1) [MIM:264700]; also known as pseudovitamin D deficiency rickets (PDDR). VDDR-1 is an autosomal recessive disease characterized by muscle weakness and early onset of rickets with hypocalcemia.,function:Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.,pathway:Hormone biosynthesis; cholecalciferol biosynthesis.,similarity:Belongs to the cytochrome P450 family.,tissue specificity:Kidney.,
功能： catalytic activity:Calcidiol + NADPH + O(2) = calcitriol + NADP(+) + H(2)O.,cofactor:Heme group.,disease:Defects in CYP27B1 are a cause of vitamin D-dependent rickets type 1 (VDDR-1) [MIM:264700]; also known as pseudovitamin D deficiency rickets (PDDR). VDDR-1 is an autosomal recessive disease characterized by muscle weakness and early onset of rickets with hypocalcemia.,function:Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.,pathway:Hormone biosynthesis; cholecalciferol biosynthesis.,similarity:Belongs to the cytochrome P450 family.,tissue specificity:Kidney.,
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