基因名称(Gene Name)
CYP27B1 CYP1ALPHA CYP27B
蛋白名称
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (EC 1.14.13.13) (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D(3) 1-alpha-hydroxylase) (VD3 1A hydroxylase) (Calcidiol 1-monooxygenase) (Cytoc
免疫原
Synthesized peptide derived from part region of human protein
特异性
CP27B Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
cytochrome P450 family 27 subfamily B member 1(CYP27B1) Homo sapiens 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. 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. [provided by RefSeq, Jul 2008],
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.,
