DISEASES

Disease-gene associations mined from literature

Literature associating SLC5A7 and congenital myasthenic syndrome

SLC5A7 [ENSP00000264047]

Solute carrier family 5 (sodium/choline cotransporter), member 7; Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.

Synonyms:  SLC5A7,  SLC5A7p,  hSLC5A7,  F5H382,  Q2T9H3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM