CYP2R1 Antibody – Rabbit Polyclonal

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]

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; 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; heme binding; steroid hydroxylase activity; oxygen binding; vitamin D3 25-hydroxylase activity

Biological Process: steroid metabolic process; organic acid metabolic process; vitamin metabolic process; xenobiotic metabolic process; exogenous drug catabolic process; vitamin D metabolic process

Disease: Vitamin D Hydroxylation-deficient Rickets, Type 1b