Protein Name solute carrier family 5 member 7
Organism Homo sapiens
Gene ID 60482
Gene Symbol

SLC5A7

UniProt Q9GZV3 (SC5A7_HUMAN), B2RCU2 (B2RCU2_HUMAN), Q2T9H3 (Q2T9H3_HUMAN), B4DUU7 (B4DUU7_HUMAN)
Relationships Total Number of functionally related compound(s) : 87
Total Number of Articles : 84
Description

solute carrier family 5 member 7

Gene Summary

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]

synonyms
  • high affinity choline transporter 1
  • Motor neuronopathy, distal hereditary, type VIIA
  • Motor neuronopathy, distal hereditary, with vocal cord paresis
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Properties