Recombinant Human Vitamin D 25-hydroxylase (CYP2R1)

Uniprot Id

Q6VVX0

Target Species

Human

Target Name

CYP2R1

Target Full Name

Vitamin D 25-hydroxylase

Target Function

A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol). Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D(2) (doxercalciferol) and 1alpha-hydroxyvitamin D(3) (alfacalcidol) forming 25-hydroxy derivatives. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).

Target Involvement

Rickets vitamin D-dependent 1B (VDDR1B)

Target Subcellular Location

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Target Protein Families

Cytochrome P450 family

Target Synonyms

CP2R1_HUMAN; CYP2R1; Cytochrome P450 2R1; Cytochrome P450 family 2 R1; Cytochrome P450 family 2 subfamily R polypeptide 1; EC 1.14.13.15; MGC4663; Vitamin D 25 hydroxylase; Vitamin D 25-hydroxylase

Target Background

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.