Aliases for SLC6A19 Gene
External Ids for SLC6A19 Gene
Previous GeneCards Identifiers for SLC6A19 Gene
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 result in Hartnup disorder. [provided by RefSeq, Jul 2008]
GeneCards Summary for SLC6A19 Gene
SLC6A19 (Solute Carrier Family 6 Member 19) is a Protein Coding gene. Diseases associated with SLC6A19 include Hartnup Disorder and Iminoglycinuria. Among its related pathways are Mineral absorption and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and neutral amino acid transmembrane transporter activity. An important paralog of this gene is SLC6A18.
UniProtKB/Swiss-Prot Summary for SLC6A19 Gene
Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:19185582, PubMed:15286788). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768).