Involvement in disease
Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A); Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B); Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C)
Subcellular Location
Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Protein Families
Ligand-gated ion channel (TC 1.A.9) family, Acetylcholine receptor (TC 1.A.9.1) subfamily, Epsilon/CHRNE sub-subfamily