DISEASES

Disease-gene associations mined from literature

Literature associating SLC6A15 and early infantile epileptic encephalopathy 3

SLC6A15 [ENSP00000266682]

Solute carrier family 6 (neutral amino acid transporter), member 15; Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for the branched-chain amino acids, particularly leucine, valine and isoleucine and methionine. Mediates the saturable, pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1:1. May have a role as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent; Solute carriers

Synonyms:  SLC6A15,  SLC6A15p,  hSLC6A15,  DKFZP761I0921,  DKFZP761I0921-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM