NCBI and Uniprot Product Information
NCBI Description
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. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
Uniprot Description
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.
Protein type: EC 1.14.13.15; Oxidoreductase
Chromosomal Location of Human Ortholog: 11p15.2
Cellular Component: endoplasmic reticulum membrane; intracellular membrane-bound organelle; cytoplasm
Molecular Function: iron ion binding; heme binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen; steroid hydroxylase activity; oxygen binding; vitamin D3 25-hydroxylase activity
Biological Process: organic acid metabolic process; steroid metabolic process; vitamin metabolic process; xenobiotic metabolic process; exogenous drug catabolic process; vitamin D metabolic process
Disease: Vitamin D Hydroxylation-deficient Rickets, Type 1b
Research Articles on VD2
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Product Notes
The Human VD2 cyp2r1 (Catalog #AAA265296) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA265296 ELISA Kit recognizes Human VD2. It is sometimes possible for the material contained within the vial of "Vitamin D2 (VD2), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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