Primary Identifier | MGI:1101061 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 20508 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable acetylcholine:proton antiporter activity and monoamine:proton antiporter activity. Involved in neurotransmitter loading into synaptic vesicle; positive regulation of neuromuscular junction development; and positive regulation of synaptic transmission. Located in cytoplasm and terminal bouton. Is active in cholinergic synapse. Is expressed in several structures, including esophagus; heart; nervous system; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 21. Orthologous to human SLC18A3 (solute carrier family 18 member A3). PHENOTYPE: Mice homozygous for a null allele exhibit decreased acetylcholine release, grip strength, coordination, exercise endurance, and social recognition memory. [provided by MGI curators] |