SLC31A1 Chromosome 9
Solute carrier family 31 member 1
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What This Gene Does
The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Solute carrier family 31
Locus Type
gene with protein product
Location
9q32
Ensembl
ENSG00000136868
Associated Conditions (1)
Neurodegeneration and seizures due to copper transport defect
Key Variants
RS2490727959
Likely pathogenic
Neurodegeneration and seizures due to copper transport defect, Neurodegeneration and seizures due to copper transport defect
Health Risk
RS2490728083
Pathogenic
Neurodegeneration and seizures due to copper transport defect, Neurodegeneration and seizures due to copper transport defect
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2490727959 | Health Risk | Likely pathogenic | Neurodegeneration and seizures due to copper transport defect, Neurodegeneration and seizures due to copper transport defect |
| RS2490728083 | Health Risk | Pathogenic | Neurodegeneration and seizures due to copper transport defect, Neurodegeneration and seizures due to copper transport defect |