SLC6A19

Chr 5

solute carrier family 6 member 19

Also known as: B0AT1, HND

NCBI Gene: 340024 ENSG00000174358 UniProt: Q695T7

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.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHartnup disorder

UniProtHyperglycinuria

UniProtIminoglycinuria

Clinical highlights

Gene-disease validity (ClinGen)

Hartnup disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.42

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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