RAPSN antibody, RAPSYN antibody, RNF205 antibody, 43kDa antibody, Nraps antibody, Raps antibody, rapsyn antibody, receptor associated protein of the synapse antibody, receptor associated protein of the synapse S homeolog antibody, receptor-associated protein of the synapse antibody, receptor-associated protein of the synapse, 43kD antibody, RAPSN antibody, rapsn.S antibody, Rapsn antibody, rapsn antibody
背景
This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.