Automated description from the Alliance of Genome Resources (Release 7.0.0)
Enables acetylcholine receptor binding activity and protein-macromolecule adaptor activity. A structural constituent of postsynaptic specialization. Involved in neurotransmitter receptor localization to postsynaptic specialization membrane and skeletal muscle acetylcholine-gated channel clustering. Acts upstream of or within maintenance of postsynaptic specialization structure and positive regulation of motor neuron apoptotic process. Located in Golgi apparatus; plasma membrane; and synapse. Is active in neuromuscular junction and postsynaptic specialization membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; forelimb bud; limb; and skeletal musculature. Used to study congenital myasthenic syndrome 11. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 11 and fetal akinesia deformation sequence syndrome 2. Orthologous to human RAPSN (receptor associated protein of the synapse).