Rabbit anti-Human CYP27B1 Polyclonal Antibody

Uniprot Id

O15528

Target Species

Human

Target Name

CYP27B1

Target Full Name

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

Target Function

A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway. Converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligand of VDR. Also active on 25-hydroxyvitamin D2. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin.

Target Involvement

Rickets vitamin D-dependent 1A (VDDR1A)

Target Subcellular Location

Mitochondrion membrane.

Target Protein Families

Cytochrome P450 family

Target Tissue Specificity

Kidney.

Target Synonyms

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; Cyp27b1; 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

Target Background

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.