CYP2R1

CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1) is a Protein Coding gene. Diseases associated with CYP2R1 include Vitamin D Hydroxylation-Deficient Rickets, Type 1B and Hypocalcemic Vitamin D-Dependent Rickets. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP2J2.

Cytochrome P450 Family 2 Subfamily R Member 1

A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D2 and D3 (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070).

Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D2 (doxercalciferol) and 1alpha-hydroxyvitamin D3 (alfacalcidol) forming 25-hydroxy derivatives (PubMed:15465040, PubMed:18511070).

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) (PubMed:12867411, PubMed:15465040, PubMed:18511070).

Calcitriol biosynthetic process from calciol Source: UniProtKB
Exogenous drug catabolic process Source: GO_Central
Organic acid metabolic process Source: GO_Central
Response to cesium ion Source: Ensembl
Response to ionizing radiation Source: Ensembl
Vitamin D metabolic process Source: Reactome
Vitamin metabolic process Source: Reactome
Xenobiotic metabolic process Source: GO_Central

Endoplasmic reticulum membrane; Microsome membrane

Rickets vitamin D-dependent 1B (VDDR1B):
An autosomal recessive 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 activity and low levels of 25-hydroxyvitamin D.