CYP2R1 Chromosome 11
Cytochrome P450 family 2 subfamily R member 1
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What This Gene Does
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]
Gene Info
Gene Group
Cytochrome P450 family 2
Locus Type
gene with protein product
Location
11p15.2
Ensembl
ENSG00000186104
Associated Conditions (9)
Pulmonary disease
chronic obstructive
susceptibility to
Vitamin D hydroxylation-deficient rickets
type 1B
CYP2R1-related disorder
Vitamin D-dependent rickets
type 1
Hypophosphataemia or rickets
Key Variants
RS7129781
association
Pulmonary disease, chronic obstructive, susceptibility to
Health Risk
RS199997444
Conflicting classifications of pathogenicity
Health Risk
RS781906434
Conflicting classifications of pathogenicity
Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets
Health Risk
RS1422405747
Pathogenic
Vitamin D hydroxylation-deficient rickets, type 1B, CYP2R1-related disorder
Health Risk
RS1848324903
Pathogenic
Health Risk
RS1848596931
Pathogenic
Health Risk
RS1848879955
Pathogenic
Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets
Health Risk
RS199883994
Pathogenic
Health Risk
RS2494267841
Pathogenic
Health Risk
RS2494270607
Pathogenic
Health Risk
RS781823033
Pathogenic
Health Risk
RS782006425
Pathogenic
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS7129781 | Health Risk | association | Pulmonary disease, chronic obstructive, susceptibility to |
| RS199997444 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781906434 | Health Risk | Conflicting classifications of pathogenicity | Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets |
| RS1422405747 | Health Risk | Pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, CYP2R1-related disorder |
| RS1848324903 | Health Risk | Pathogenic | — |
| RS1848596931 | Health Risk | Pathogenic | — |
| RS1848879955 | Health Risk | Pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets |
| RS199883994 | Health Risk | Pathogenic | — |
| RS2494267841 | Health Risk | Pathogenic | — |
| RS2494270607 | Health Risk | Pathogenic | — |
| RS781823033 | Health Risk | Pathogenic | — |
| RS782006425 | Health Risk | Pathogenic | — |
| RS1306247629 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets |
| RS1555014321 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets |
| RS202011621 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets |
| RS576642411 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, CYP2R1-related disorder |
| RS61495246 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D-dependent rickets |
| RS782242126 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets |
| RS782285382 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets |
| RS782459395 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D hydroxylation-deficient rickets, type 1B, Vitamin D hydroxylation-deficient rickets |