Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6572
MIM: 600336
HGNC: 10936
Ensembl: ENSG00000187714
Variants:
dbSNP: 6572
ClinVar: 6572
TCGA: ENSG00000187714
COSMIC: SLC18A3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000187714 | ENST00000374115 | Q16572 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33462016 | 2021 | Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations. | 5 |
| 33638639 | 2021 | Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia. | 11 |
| 33940317 | 2021 | Expression of VAChT and 5-HT in Ulcerative colitis dendritic cells. | 15 |
| 34943989 | 2021 | Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3. | 1 |
| 33462016 | 2021 | Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations. | 5 |
| 33638639 | 2021 | Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia. | 11 |
| 33940317 | 2021 | Expression of VAChT and 5-HT in Ulcerative colitis dendritic cells. | 15 |
| 34943989 | 2021 | Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3. | 1 |
| 30720884 | 2019 | Cholinergic system changes of falls and freezing of gait in Parkinson's disease. | 72 |
| 31059209 | 2019 | SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. | 5 |
| 30720884 | 2019 | Cholinergic system changes of falls and freezing of gait in Parkinson's disease. | 72 |
| 31059209 | 2019 | SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. | 5 |
| 30255936 | 2018 | Regional vesicular acetylcholine transporter distribution in human brain: A [(18) F]fluoroethoxybenzovesamicol positron emission tomography study. | 25 |
| 30255936 | 2018 | Regional vesicular acetylcholine transporter distribution in human brain: A [(18) F]fluoroethoxybenzovesamicol positron emission tomography study. | 25 |
| 28188302 | 2017 | Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. | 11 |
Citation
Dessen P
SLC18A3 (solute carrier family 18 member A3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73309/slc18a3-(solute-carrier-family-18-member-a3)
