Gene: SLC6A19

Alternate names for this Gene: B0AT1|HND

Gene Summary: 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

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: solute carrier family 6 member 19

Type of Gene: protein-coding

rs121434346 in SLC6A19 gene and Hartnup Disease PMID 15286788 2004 Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G --> A and 0.001 for 718C --> T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder.

PMID 17555458 2007 Persistence of the common Hartnup disease D173N allele in populations of European origin.

PMID 19185582 2009 Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.

PMID 18484095 2008 Further evidence for allelic heterogeneity in Hartnup disorder.

PMID 18424768 2008 A protein complex in the brush-border membrane explains a Hartnup disorder allele.

PMID 15286787 2004 Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

PMID 15286788 2004 Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.

rs79784189 in SLC6A19 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs79784189 in SLC6A19 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.