SLC18A3

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.

Full Name

Solute Carrier Family 18 Member A3

Function

Involved in acetylcholine transport into synaptic vesicles.

Biological Process

Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process neurotransmitter transportTAS:Reactome

Cellular Location

Membrane

Involvement in disease

Myasthenic syndrome, congenital, 21, presynaptic (CMS21):
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS21 is an autosomal recessive, pre-synaptic form characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water. Learning difficulties and left ventricular dysfunction may be present in some patients.

Topology

Cytoplasmic: 1-33
Helical: 34-54
Lumenal: 55-125
Helical: 126-146
Cytoplasmic: 147-152
Helical: 153-173
Lumenal: 174-182
Helical: 183-203
Cytoplasmic: 204-213
Helical: 214-234
Lumenal: 235-242
Helical: 243-263
Cytoplasmic: 264-289
Helical: 290-310
Lumenal: 311-325
Helical: 326-346
Cytoplasmic: 347-356
Helical: 357-377
Lumenal: 378-388
Helical: 389-409
Cytoplasmic: 410-422
Helical: 423-443
Lumenal: 444-447
Helical: 448-468
Cytoplasmic: 469-532