SLC6A19 Chromosome 5
Solute carrier family 6 member 19
Upload your DNA to see your personal genotypes for variants in SLC6A19.
What This Gene Does
This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
5p15.33
Ensembl
ENSG00000174358
Associated Conditions (6)
Inborn genetic diseases
Neutral 1 amino acid transport defect
High myopia
Hyperglycinuria
Iminoglycinuria
SLC6A19-related disorder
Key Variants
RS138803628
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142164435
Conflicting classifications of pathogenicity
Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
Health Risk
RS142269451
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1448799448
Conflicting classifications of pathogenicity
Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
Health Risk
RS145250153
Conflicting classifications of pathogenicity
Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
Health Risk
RS148800217
Conflicting classifications of pathogenicity
Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
Health Risk
RS149124864
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200745023
Conflicting classifications of pathogenicity
Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
Health Risk
RS201925289
Conflicting classifications of pathogenicity
Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
Health Risk
RS201936518
Conflicting classifications of pathogenicity
Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
Health Risk
RS202017164
Conflicting classifications of pathogenicity
Health Risk
RS202191814
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138803628 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142164435 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS142269451 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1448799448 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS145250153 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS148800217 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS149124864 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200745023 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS201925289 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS201936518 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS202017164 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202191814 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374976872 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756010661 | Health Risk | Conflicting classifications of pathogenicity | High myopia, Hyperglycinuria, Neutral 1 amino acid transport defect |
| RS756158809 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS761079636 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS762942358 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762989809 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS763765943 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neutral 1 amino acid transport defect, Inborn genetic diseases |
| RS765798920 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766491340 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS773841943 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neutral 1 amino acid transport defect, Inborn genetic diseases |
| RS775834401 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779335373 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779727632 | Health Risk | Conflicting classifications of pathogenicity | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS146608591 | Health Risk | Likely pathogenic | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS1554033750 | Health Risk | Likely pathogenic | — |
| RS2477938724 | Health Risk | Likely pathogenic | — |
| RS2477939209 | Health Risk | Likely pathogenic | Hyperglycinuria, Hyperglycinuria |
| RS2477951256 | Health Risk | Likely pathogenic | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS369804798 | Health Risk | Likely pathogenic | — |
| RS554777392 | Health Risk | Likely pathogenic | Hyperglycinuria, Iminoglycinuria, Neutral 1 amino acid transport defect |
| RS745524993 | Health Risk | Likely pathogenic | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS757679627 | Health Risk | Likely pathogenic | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS759094266 | Health Risk | Likely pathogenic | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS121434347 | Health Risk | Pathogenic | Neutral 1 amino acid transport defect, Iminoglycinuria, Hyperglycinuria |
| RS142979576 | Health Risk | Pathogenic | Neutral 1 amino acid transport defect, SLC6A19-related disorder, Neutral 1 amino acid transport defect |
| RS147837686 | Health Risk | Pathogenic | Neutral 1 amino acid transport defect, Hyperglycinuria, Iminoglycinuria |
| RS1561165786 | Health Risk | Pathogenic | — |
| RS1745712448 | Health Risk | Pathogenic | — |
| RS1746389144 | Health Risk | Pathogenic | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS2477956659 | Health Risk | Pathogenic | — |
| RS2477956792 | Health Risk | Pathogenic | — |
| RS778611489 | Health Risk | Pathogenic | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS121434346 | Health Risk | Pathogenic/Likely pathogenic | Neutral 1 amino acid transport defect, Iminoglycinuria, Hyperglycinuria |
| RS1236852017 | Health Risk | Pathogenic/Likely pathogenic | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |
| RS200842846 | Health Risk | Pathogenic/Likely pathogenic | Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect |