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CYP2R1 Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3). Defects in CYP2R1 are the cause of rickets vitamin D- dependent type 1B (VDDR1B); also known as pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. 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. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activityand low levels of 25-hydroxyvitamin D. Belongs to the cytochrome P450 family. Note: This description may include information from UniProtKB.
Protein type: EC; Oxidoreductase
Chromosomal Location of Human Ortholog: 11p15.2
Cellular Component: endoplasmic reticulum membrane
Molecular Function: heme binding; iron ion binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; steroid hydroxylase activity; vitamin D3 25-hydroxylase activity
Biological Process: response to cesium ion; response to ionizing radiation; vitamin D metabolic process; vitamin metabolic process
Disease: Vitamin D Hydroxylation-deficient Rickets, Type 1b
Reference #:  Q6VVX0 (UniProtKB)
Alt. Names/Synonyms: CP2R1; CYP2R1; Cytochrome P450 2R1; cytochrome P450, family 2, R1; cytochrome P450, family 2, subfamily R, polypeptide 1; MGC4663; Vitamin D 25-hydroxylase
Gene Symbols: CYP2R1
Molecular weight: 57,359 Da
Basal Isoelectric point: 7.25  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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