Choline transporter

The high-affinity choline transporter (ChT) also known as solute carrier family 5 member 7 is a is_associated_with::protein in humans that is encoded by the SLC5A7 is_associated_with::gene. It is a cell membrane transporter and carries is_associated_with::choline into is_associated_with::acetylcholine-synthesizing is_associated_with::neurons.

is_associated_with::Hemicholinium-3 is an inhibitor of the ChT and can be used to deplete is_associated_with::acetylcholine stores, while is_associated_with::coluracetam is an enhancer of the ChT and can increase is_associated_with::cholinergic is_associated_with::neurotransmission by enhancing acetylcholine synthesis.

Function
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.

is_associated_with::Mutations in the SLC5A7 gene have been associated with is_associated_with::Distal spinal muscular atrophy with vocal cord paralysis (is_associated_with::distal hereditary motor neuropathy type 7A).

Model organisms
is_associated_with::Model organisms have been used in the study of SLC5A7 function. A conditional is_associated_with::knockout mouse line called Slc5a7tm1a(KOMP)Wtsi was generated at the is_associated_with::Wellcome Trust Sanger Institute. Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping