SLC18A3

Chr 10AR

solute carrier family 18 member A3

Also known as: CMS21, VACHT

NCBI Gene: 6572 ENSG00000187714 UniProt: Q16572 OMIM: 600336

The encoded protein is a vesicular acetylcholine transporter that uses a proton gradient to transport acetylcholine into synaptic vesicles for neurotransmitter release at cholinergic synapses. Biallelic mutations cause congenital myasthenic syndrome type 21, a presynaptic neuromuscular transmission disorder inherited in an autosomal recessive pattern. This gene has moderate constraint against loss-of-function variants (LOEUF 0.636), suggesting some tolerance to complete protein loss.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Myasthenic syndrome, congenital, 21, presynapticMIM #617239

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.64

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — SLC18A3