Sodium-dependent neutral amino acid transporter
The SLC6A19 gene encodes a sodium dependent amino acid transporter of neutral amino acids. Mutations are responsible for autosomal recessive Hartnup disease and iminoglycinuria as well as dominant hyperglycinuria.
Genetests:
Related Diseases:
References:
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Bröer S et al. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
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Kleta R et al. (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
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3. |
Seow HF et al. (2004) Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.
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4. |
Bröer A et al. (2004) Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder.
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5. |
Bröer A et al. (2011) Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.
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Orphanet article
Orphanet ID 119703
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7. |
NCBI article
NCBI 340024
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8. |
OMIM.ORG article
Omim 608893
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9. |
Wikipedia article
Wikipedia EN (SLC6A19)
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Update: Aug. 14, 2020