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SLC5A7 solute carrier family 5 member 7

Gene ID: 60482, updated on 8-Jul-2021
Gene type: protein coding
Also known as: CHT; CHT1; CMS20; HMN7A

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]

Genomic context

Location:
2q12.3
Sequence:
Chromosome: 2; NC_000002.12 (107986524..108014497)
Total number of exons:
10

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