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Solute Carrier Family 6 Member 19 (SLC6A19)
- Target
- SLC6A19
- Molecular classification
- Transporter, Solute Carrier, Membrane Protein
01
Overview
SLC6A19 encodes the B0AT1 protein, a sodium-dependent neutral amino acid transporter located primarily in the intestinal and renal epithelial cells. It plays a critical role in the absorption and reabsorption of neutral amino acids. Mutations in SLC6A19 cause Hartnup disease, characterized by impaired neutral amino acid transport and increased urinary excretion.
- Other names
- B0AT1HNDSodium-dependent neutral amino acid transporter B(0)AT1System B(0) neutral amino acid transporter AT1slc6a19a.1slc6a19b
02
Mechanism of action
Sodium-dependent symporter; couples sodium ion gradient to drive uptake of substrate across cell membranes
03
Biological functions
Amino acid transportNutrient absorptionRenal reabsorption
04
Disease associations
Hartnup diseaseAminoaciduria
05
Safety considerations
Potential for drug interactions affecting amino acid transportConsiderations for patients with Hartnup disease receiving other medications
06
Biomarkers
Urinary neutral amino acid levels (in Hartnup disease)
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