SLC18A3 solute carrier family 18 member A3
Gene ID: 6572, updated on 27-Aug-2024Gene type: protein coding
Also known as: CMS21; VACHT
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC18A3
- Go to Variation Viewer for SLC18A3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital myasthenic syndrome 21 | See labs |
Genomic context
- Location:
- 10q11.23
- Sequence:
- Chromosome: 10; NC_000010.11 (49610310..49612720)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC18A3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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