SLC7A7 Chromosome 14
Solute carrier family 7 member 7
Upload your DNA to see your personal genotypes for variants in SLC7A7.
What This Gene Does
The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
Solute carrier family 7
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000155465
Associated Conditions (5)
Lysinuric protein intolerance
Autoinflammatory syndrome
SLC7A7-related disorder
Inborn genetic diseases
Colon adenocarcinoma
Key Variants
RS1043886041
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS11568423
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Autoinflammatory syndrome, SLC7A7-related disorder
Health Risk
RS11568437
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS1239008031
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS1253918930
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS1284258930
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS139270936
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS139619724
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
Health Risk
RS139776370
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS142956369
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Inborn genetic diseases, Lysinuric protein intolerance
Health Risk
RS143575981
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
Health Risk
RS146280056
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Inborn genetic diseases, Lysinuric protein intolerance
Health Risk
All Variants (143)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2501978400 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833800 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833808 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833812 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833813 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833817 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833818 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833821 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833827 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833828 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS72552272 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS748127544 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS763739193 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS769721689 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS771254387 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS915583102 | Health Risk | Pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS121908678 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS1290445670 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS1355745932 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS1414333836 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2038594225 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2038664064 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2038690553 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2138663895 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2139383552 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2139394672 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2139394686 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2501832390 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2501832728 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2501833115 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2501833361 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2501863948 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2501974171 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2501977813 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833794 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833798 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833806 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833807 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833822 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, SLC7A7-related disorder, Lysinuric protein intolerance |
| RS386833823 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS752263234 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS773357652 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS774080549 | Health Risk | Pathogenic/Likely pathogenic | Lysinuric protein intolerance, SLC7A7-related disorder, Lysinuric protein intolerance |