Literature associating SLC5A7 and congenital myasthenic syndrome 19
SLC5A7 [ENSP00000264047]
High affinity choline transporter 1; 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, Q9GZV3, Q9GZV3p ...