Choline transporter

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Solute carrier family 5 (choline transporter), member 7
Identifiers
Symbols SLC5A7 ; CHT; CHT1; HMN7A; hCHT
External IDs OMIM608761 HomoloGene32516 GeneCards: SLC5A7 Gene
Orthologs
Species Human Mouse
Entrez 60482 63993
Ensembl ENSG00000115665 ENSMUSG00000023945
UniProt Q9GZV3 Q8BGY9
RefSeq (mRNA) NM_021815 NM_022025
RefSeq (protein) NP_068587 NP_071308
Location (UCSC) Chr 2:
108.6 – 108.63 Mb
Chr 17:
54.27 – 54.3 Mb
PubMed search [1] [2]

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, while coluracetam is an enhancer of the ChT and can increase cholinergic neurotransmission by enhancing acetylcholine synthesis.

Function[edit]

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[edit]

References[edit]

  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. doi:10.1006/bbrc.2000.3561. PMID 11027560. 
  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. doi:10.1016/j.ajhg.2012.09.019.  edit


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