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Sodium-dependent neutral amino acid transporter B(0)AT1

Protein-coding gene in the species Homo sapiens

Protein-coding gene in the species Homo sapiens

Sodium-dependent neutral amino acid transporter B(0)AT1 is a protein that in humans is encoded by the SLC6A19 gene.

Function

SLC6A19 is a system B(0) transporter that mediates epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine.

Clinical significance

Mutations in the SLC6A19 gene cause Hartnup disease.

References

References

  1. (September 2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nature Genetics.
  2. (June 2004). "Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder". Journal of Biological Chemistry.
  3. (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiological Reviews.
  4. (September 2004). "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nature Genetics.
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