Aliases for RAPSN Gene
External Ids for RAPSN Gene
Previous GeneCards Identifiers for RAPSN Gene
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. [provided by RefSeq, Apr 2011]
GeneCards Summary for RAPSN Gene
RAPSN (Receptor-Associated Protein Of The Synapse) is a Protein Coding gene. Diseases associated with RAPSN include congenital myasthenic syndrome associated with acetylcholine receptor deficiency and rapsn-related congenital myasthenic syndrome. Among its related pathways are Agrin Interactions at Neuromuscular Junction. GO annotations related to this gene include ionotropic glutamate receptor binding and acetylcholine receptor binding.
UniProtKB/Swiss-Prot for RAPSN Gene
Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin