SLC6A19
Chr 5ARsolute carrier family 6 member 19
Also known as: B0AT1, HND
The protein functions as a sodium-dependent transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells, requiring accessory proteins (CLTRN in kidney, ACE2 in intestine) for proper cell surface expression and activity. Mutations cause Hartnup disorder, an autosomal recessive condition characterized by pellagra-like symptoms, cerebellar ataxia, and psychosis. The gene shows very low constraint against loss-of-function variants (LOEUF 1.42), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC6A19 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools