AAC51853.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,504 Da
NCBI Official Full Name
25-hydroxyvitamin D-1-alpha-hydroxylase
NCBI Official Synonym Full Names
cytochrome P450 family 27 subfamily B member 1
NCBI Official Synonym Symbols
VDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha [Similar Products]
NCBI Protein Information
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
UniProt Protein Name
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
UniProt Synonym Protein Names
25-OHD-1 alpha-hydroxylase; 25-hydroxyvitamin D(3) 1-alpha-hydroxylase; VD3 1A hydroxylase; Calcidiol 1-monooxygenase; Cytochrome P450 subfamily XXVIIB polypeptide 1; Cytochrome P450C1 alpha; Cytochrome P450VD1-alpha; Cytochrome p450 27B1
UniProt Synonym Gene Names
UniProt Entry Name
CP27B_HUMAN
NCBI Summary for CYP27B1
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]
UniProt Comments for CYP27B1
CYP27B1: 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. Defects in CYP27B1 are the cause of rickets vitamin D- dependent type 1A (VDDR1A); 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. Belongs to the cytochrome P450 family.
Protein type: Oxidoreductase; Cell cycle regulation; Lipid Metabolism - steroid biosynthesis; Mitochondrial; EC 1.14.13.13
Chromosomal Location of Human Ortholog: 12q14.1
Cellular Component: cytoplasm; mitochondrial outer membrane; mitochondrion
Molecular Function: calcidiol 1-monooxygenase activity; heme binding; iron ion binding
Biological Process: bone mineralization; calcium ion homeostasis; calcium ion transport; decidualization; fat-soluble vitamin metabolic process; negative regulation of cell growth; negative regulation of cell proliferation; positive regulation of keratinocyte differentiation; regulation of bone mineralization; response to estrogen stimulus; response to lipopolysaccharide; response to vitamin D; vitamin D catabolic process; vitamin D metabolic process; vitamin metabolic process; xenobiotic metabolic process
Disease: Vitamin D Hydroxylation-deficient Rickets, Type 1a
Research Articles on CYP27B1
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Products associated with CYP27B1 elisa kit
Pathways associated with CYP27B1 elisa kit
Diseases associated with CYP27B1 elisa kit
Organs/Tissues associated with CYP27B1 elisa kit
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