Choline transporter

Choline transporter

Solute carrier family 5 (choline transporter), member 7
Identifiers
Symbols  ; CHT; CHT1; HMN7A; hCHT
External IDs GeneCards:
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

The high-affinity choline transporter (ChT) also known as solute carrier family 5 member 7 is a protein in humans that is encoded by the SLC5A7 gene.[1] It is a plasmalemmal transporter and carries choline into acetylcholine-synthesizing neurons.

Hemicholinium-3 is an inhibitor of the ChT and can be used to deplete acetylcholine stores.

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.[1][2]

Mutations in the SLC5A7 gene have been associated with Distal spinal muscular atrophy with vocal cord paralysis (distal hereditary motor neuropathy type 7A).[3]

See also

References

  1. ^ a b "Entrez Gene: Solute carrier family 5 (choline transporter), member 7". 
  2. ^ Apparsundaram S, Ferguson SM, George AL, Blakely RD (October 2000). "Molecular cloning of a human, hemicholinium-3-sensitive choline transporter". Biochem. Biophys. Res. Commun. 276 (3): 862–7.  
  3. ^ Barwick, K. E. S.; Wright, J.; Al-Turki, S.; McEntagart, M. M.; Nair, A.; Chioza, B.; Al-Memar, A.; Modarres, H.; Reilly, M. M.; Dick, K. J.; Ruggiero, A. M.; Blakely, R. D.; Hurles, M. E.; Crosby, A. H. (2012). "Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy". The American Journal of Human Genetics 91 (6): 1103.  

This article incorporates text from the United States National Library of Medicine, which is in the public domain.