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 (Neutral Amino Acid Transporter), Member 19) is a Protein Coding gene. Diseases associated with SLC6A19 include hartnup disorder and iminoglycinuria, digenic. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 for SLC6A19 Gene
Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium-dependent. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity).