Aliases for SLC5A7 Gene
External Ids for SLC5A7 Gene
Choline is a direct precursor of acetylcholine (ACh), a neurotransmitter of the central and peripheral nervous system that regulates a variety of autonomic, cognitive, and motor functions. SLC5A7 is a Na(+)- and Cl(-)- dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in cholinergic neurons (Apparsundaram et al., 2000 [PubMed 11027560]).[supplied by OMIM, Mar 2008]
GeneCards Summary for SLC5A7 Gene
SLC5A7 (Solute Carrier Family 5 (Sodium/Choline Cotransporter), Member 7) is a Protein Coding gene. Diseases associated with SLC5A7 include distal hereditary motor neuropathy type 7 and neuronopathy, distal hereditary motor, type viia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transmission across Chemical Synapses. GO annotations related to this gene include choline transmembrane transporter activity and choline:sodium symporter activity.
UniProtKB/Swiss-Prot for SLC5A7 Gene
Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.