Aliases for SLC5A7 Gene
External Ids for SLC5A7 Gene
Previous GeneCards Identifiers for SLC5A7 Gene
This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
GeneCards Summary for SLC5A7 Gene
SLC5A7 (Solute Carrier Family 5 Member 7) is a Protein Coding gene. Diseases associated with SLC5A7 include Neuronopathy, Distal Hereditary Motor, Type Viia and Congenital Myasthenic Syndrome 20. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neurotransmitter Release Cycle. GO annotations related to this gene include transporter activity and choline transmembrane transporter activity.
UniProtKB/Swiss-Prot for SLC5A7 Gene
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.