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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.
Gene Name: | Receptor-associated Protein Of The Synapse, 43kd (RAPSN) |
Synonyms: | RAPSN, 43 kDa postsynaptic protein, CMS1D, CMS1E, RING finger protein 205, RAPSYN, RNF205, 43 kDa receptor-associated protein of the synapse, acetylcholine receptor-associated 43 kda protein |
Target Sequences: | NM_005055 NP_005046.2 Q13702 |
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