From NCBI Gene: Myasthenic syndrome, congenital, 18From UniProt: Myasthenic syndrome, congenital, 18 (CMS18): 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 affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS18 is an autosomal dominant presynaptic disorder clinically characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia. [MIM:616330]

     From NCBI Gene: Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] From UniProt: t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells.

The following transcription factors affect gene expression:

• NF-kappaB
• AP-1
• AhR
• c-Jun
• STAT3
• NF-kappaB1
• STAT5A

Tissue specificity:

Neurons of the neocortex, hippocampus, piriform cortex, anterior thalamic nuclei, pontine nuclei, and granule cells of the cerebellum.

Molecular Function:

• Snap Receptor Activity
• Syntaxin-1 Binding
• Calcium-Dependent Protein Binding

Biological Processes:

• Neurotransmitter Uptake
• Chemical Synaptic Transmission
• Neurotransmitter Secretion
• Locomotory Behavior
• Associative Learning
• Regulation Of Neuron Projection Development
• Glutamate Secretion
• Synaptic Vesicle Exocytosis
• Synaptic Vesicle Docking
• Synaptic Vesicle Priming
• Synaptic Vesicle Fusion To Presynaptic Active Zone Membrane
• Regulation Of Insulin Secretion
• Long-Term Synaptic Potentiation

Drug Bank:

• Botulinum Toxin Type A