DISEASES

Disease-gene associations mined from literature

Literature associating SLC1A3 and episodic ataxia

SLC1A3 [ENSP00000265113]

Solute carrier family 1 (glial high affinity glutamate transporter), member 3; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. 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); Solute carriers

Synonyms:  SLC1A3,  SLC1A3p,  hSLC1A3,  A0A024R050,  B4DF14 ...

Linkouts:  STRING  Pharos  UniProt  OMIM