DISEASES

Disease-gene associations mined from literature

Literature associating SLC6A19 and hyperekplexia

SLC6A19 [ENSP00000305302]

Sodium-dependent neutral amino acid transporter B(0)AT1; Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells . This uptake is sodium-dependent and chloride-independent . Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity . ECO:0000269|PubMed:18484095, ECO:0000269|PubMed:19185582,

Synonyms:  SLC6A19,  SLC6A19p,  hSLC6A19,  E9PD72,  Q695T7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM