Involvement in disease
Multiple pterygium syndrome, lethal type (LMPS); Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A); Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B); Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C)
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, Delta/CHRND sub-subfamily
