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HighlightsThe Vesicular acetylcholine transporter (VAChT), also known as Solute carrier family 18 member 3, is a transmembrane protein encoded by SLC18A3 gene in humans. SLC18A3 was found on chromosome 10q11.23. This gene belongs to the first class of the choline acetyltransferase gene. It consists of a single exon, inside the first part of the CHAT gene, and encodes a vesicular acetylcholine transporter (VAChT). SLC18A3 is a 532-an amino acid protein in which 12 transmembrane domains are locked on the membrane of presynaptic secretory vesicles, where it transports acetylcholine into vesicles.
| Basic Information of SLC18A3 | |
| Protein Name | Vesicular acetylcholine transporter |
| Gene Name | SLC18A3 |
| Aliases | Solute carrier family 18 member 3 |
| Organism | Homo sapiens (Human) |
| UniProt ID | Q16572 |
| Transmembrane Times | 12 |
| Length (aa) | 532 |
| Sequence | MESAEPAGQARAAATKLSEAVGAALQEPRRQRRLVLVIVCVALLLDNMLYMVIVPIVPDYIAHMRGGGEGPTRTPEVWEPTLPLPTPANASAYTANTSASPTAAWPAGSALRPRYPTESEDVKIGVLFASKAILQLLVNPLSGPFIDRMSYDVPLLIGLGVMFASTVLFAFAEDYATLFAARSLQGLGSAFADTSGIAMIADKYPEEPERSRALGVALAFISFGSLVAPPFGGILYEFAGKRVPFLVLAAVSLFDALLLLAVAKPFSAAARARANLPVGTPIHRLMLDPYIAVVAGALTTCNIPLAFLEPTIATWMKHTMAASEWEMGMAWLPAFVPHVLGVYLTVRLAARYPHLQWLYGALGLAVIGASSCIVPACRSFAPLVVSLCGLCFGIALVDTALLPTLAFLVDVRHVSVYGSVYAIADISYSVAYALGPIVAGHIVHSLGFEQLSLGMGLANLLYAPVLLLLRNVGLLTRSRSERDVLLDEPPQGLYDAVRLRERPVSGQDGEPRSPPGPFDACEDDYNYYYTRS |
SLC18A3 is a neurotransmitter transporter that is responsible for the incorporation of acetylcholine (ACh) into nerve cells, allowing acetylcholine to secrete acetylcholine. SLC18A3 can deliver it to vesicles by relying on exchanges between protons that were previously pumped into the vesicles. The action of exiting the proton brings the molecule into the vesicle. The transportation of Acetylcholine utilizes a proton gradient established by a vacuolar ATPase. Acetylcholine released by cholinergic nerve endings is important for the neurotransmission of the central nervous system and the peripheral nervous system. In the CHAT genes, the presence of SLC18A3 has been evolutionarily protected, from a primitive nematode to humans, suggesting that it has an important regulatory mechanism to ensure proper expression of SLC18A3.
Fig.1 The structure of Vesicular acetylcholine transporter.
The clinical and electrographic characteristics of the described patients are consistent with previously reported SLC18A3 deficient mouse models, suggesting that SLC18A3 is responsible for uptake of acetylcholine into presynaptic vesicles.
This study reveals that SLC18A3 deficiency is a presynaptic muscle weakness syndrome, while the loss of SLC18A3 function is the basis for severe joint flexion and respiratory failure.
The presence of phenotypic diversity and the absence of significant normal vector parents suggest that subjects carrying 10q11.21q11.23 deficiency may exhibit variable phenotypic expression and incomplete penetrance influenced by other genetic and non-genetic modifiers.
The β2-adrenergic agonists alone or in combination with pyridoxamine or 3,4-Dyaminoopiridine has been reported in different types of CMS, including potassium deficiency and glycosylation abnormalities, thereby expanding available treatment options.
Up to date, no major genetic variation in heart rate variability has been found in the largest and most comprehensive candidate gene study of the acetylcholine pathway.
To obtain the soluble and functional target protein, the versatile Magic™ membrane protein production platform in Creative Biolabs enables many flexible options, from which you can always find a better match for your particular project. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-SLC18A3 antibody development services.
Creative Biolabs' skillful scientists are glad to leverage our expertise and advanced technologies to help you with the member protein research. If you are interested, please feel free to contact us for more details.
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