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Product Name CYP27B1 Chinese Name CYP27B1单克隆抗体 Alias 1alpha(OH)ase; 25-hydroxyvitamin D(3) 1-alpha-hydroxylase; 25-hydroxyvitamin D-1 alpha hydroxylase; 25-OHD-1 alpha-hydroxylase; Calcidiol 1-monooxygenase; CP27B_HUMAN; CP2B; CYP1; CYP1ALPHA; CYP27B; Cytochrome p450 27B1; Cytochrome p450 27B13; Cytochrome P450 family 27 subfamily B polypeptide 1; Cytochrome P450 subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase) polypeptide 1; Cytochrome P450 subfamily XXVIIB polypeptide 1; Cytochrome P450C1 alpha; Cytochrome P450VD1-alpha; mitochondrial; P450C1 alpha; P450c1; P450C1-alpha; P450VD1-alpha; PDDR; VD3 1A hydroxylase; VDD1; VDDR; VDDR I; VDDRI; VDR. Research Area Cell biology Immunogen Species Mouse Clonality Monoclonal Clone NO. G4E2 React Species Human, Applications WB=1:500-1000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 57kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human CYP27B1: 411-510/508 Lsotype IgG1,κ Purification affinity purified by Protein G Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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]
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.
Subcellular Location:
Mitochondrion membrane.
Tissue Specificity:
Kidney.
DISEASE:
Defects in CYP27B1 are the cause of rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]; also known as pseudovitamin D deficiency rickets (PDDR). A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets.
Similarity:
Belongs to the cytochrome P450 family.
SWISS:
O15528
Gene ID:
1594
Database links:Entrez Gene: 1594 Human
SwissProt: O15528 Human
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