Disease-gene associations mined from literature

Literature associating SLC1A6 and early infantile epileptic encephalopathy 5

SLC1A6 [ENSP00000221742]

Solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6; 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 (By similarity). 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 (Probable); Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A6 subfamily.

Synonyms:  SLC1A6,  SLC1A6p,  hSLC1A6,  E7EV13,  M0QY32 ...

Linkouts:  STRING  Pharos  UniProt  OMIM