Disease-gene associations mined from literature

Literature associating SLC1A3 and Alexander disease

SLC1A3 [ENSP00000265113]

Excitatory amino acid transporter 1; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:8123008, PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion . Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport . Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity). ECO:0000269|PubMed:20477940, ECO:0000269|PubMed:26690923, ECO:0000269|PubMed:28032905, ECO:0000269|PubMed:28424515,; Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A3 subfamily.

Synonyms:  SLC1A3,  SLC1A3p,  hSLC1A3,  A0A024R050,  A0A087WT87 ...

Linkouts:  STRING  Pharos  UniProt  OMIM