Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     Covered on Genetics Home Reference: congenital myasthenic syndromeFrom NCBI Gene: Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiencyMyasthenic syndrome, congenital, 2a, slow-channelFrom UniProt: Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C): 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. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. [MIM:616314] Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A): 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. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. [MIM:616313]

     From NCBI Gene: The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008] From UniProt: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• PPAR-alpha
• C/EBPalpha
• FOXF2
• SREBP-1a
• Brachyury
• SREBP-1c
• SREBP-1b
• Pax-2

Molecular Function:

• Acetylcholine-Activated Cation-Selective Channel Activity
• Acetylcholine Binding
• Channel Activity
• Ligand-Gated Ion Channel Activity

Biological Processes:

• Behavioral Response To Nicotine
• Cation Transmembrane Transport
• Cation Transport
• Muscle Contraction
• Muscle Fiber Development
• Neurological System Process
• Neuromuscular Synaptic Transmission
• Postsynaptic Membrane Organization
• Regulation Of Membrane Potential
• Signal Transduction
• Skeletal Muscle Contraction
• Synaptic Transmission, Cholinergic

Drug Bank:

• Galantamine

*synonyms