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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. Note: This description may include information from UniProtKB.
Protein type: Cell cycle regulation; EC; Lipid Metabolism - steroid biosynthesis; Mitochondrial; Oxidoreductase
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; negative regulation of cell growth; negative regulation of cell proliferation; positive regulation of keratinocyte differentiation; regulation of bone mineralization; response to estrogen; response to lipopolysaccharide; response to vitamin D; vitamin D catabolic process; vitamin D metabolic process; vitamin metabolic process
Disease: Vitamin D Hydroxylation-deficient Rickets, Type 1a
Reference #:  O15528 (UniProtKB)
Alt. Names/Synonyms: 1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase; 25-hydroxyvitamin D(3) 1-alpha-hydroxylase; 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; 25-hydroxyvitamin D-1-alpha-hydroxylase; 25-Hydroxyvitamin D3 1alpha-hydroxylase; 25-OHD-1 alpha-hydroxylase; Calcidiol 1-monooxygenase; CP27B; CP2B; CYP1; CYP1ALPHA; CYP27B; CYP27B1; Cytochrome p450 27B1; Cytochrome P450 subfamily XXVIIB polypeptide 1; 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; P450c1; P450C1-alpha; P450VD1-alpha; PDDR; VD3 1A hydroxylase; VDD1; VDDR; VDDR I; VDDRI; VDR
Gene Symbols: CYP27B1
Molecular weight: 56,504 Da
Basal Isoelectric point: 9.34  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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