XPR1 Chromosome 1
Xenotropic and polytropic retrovirus receptor 1
Upload your DNA to see your personal genotypes for variants in XPR1.
What This Gene Does
The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
Solute carrier family 53
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000143324
Associated Conditions (5)
Inborn genetic diseases
See cases
Basal ganglia calcification
idiopathic
6
Key Variants
RS139314192
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200954931
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS560099680
Conflicting classifications of pathogenicity
Inborn genetic diseases, Basal ganglia calcification, idiopathic
Health Risk
RS757202895
Conflicting classifications of pathogenicity
Basal ganglia calcification, idiopathic, 6
Health Risk
RS1488698763
Likely pathogenic
Basal ganglia calcification, idiopathic, 6
Health Risk
RS1571259311
Likely pathogenic
Health Risk
RS786205901
Pathogenic
Basal ganglia calcification, idiopathic, 6
Health Risk
RS786205902
Pathogenic
Basal ganglia calcification, idiopathic, 6
Health Risk
RS786205903
Pathogenic
Basal ganglia calcification, idiopathic, 6
Health Risk
RS786205904
Pathogenic
Basal ganglia calcification, idiopathic, 6
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139314192 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200954931 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS560099680 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Basal ganglia calcification, idiopathic |
| RS757202895 | Health Risk | Conflicting classifications of pathogenicity | Basal ganglia calcification, idiopathic, 6 |
| RS1488698763 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 6 |
| RS1571259311 | Health Risk | Likely pathogenic | — |
| RS786205901 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 6 |
| RS786205902 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 6 |
| RS786205903 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 6 |
| RS786205904 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 6 |