Aliases for RAPSN Gene
- Receptor Associated Protein Of The Synapse 2 3 5
- 43 KDa Receptor-Associated Protein Of The Synapse 3 4
- RING Finger Protein 205 3 4
- RNF205 3 4
- Acetylcholine Receptor-Associated 43 Kda Protein 3
- Acetylcholine Receptor-Associated 43 KDa Protein 4
- Receptor-Associated Protein Of The Synapse, 43kD 2
- 43 Kda Postsynaptic Protein 3
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 Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency and Fetal Akinesia Deformation Sequence 2. Among its related pathways are Agrin Interactions at Neuromuscular Junction. Gene Ontology (GO) annotations related to this gene include ionotropic glutamate receptor binding and acetylcholine receptor binding. An important paralog of this gene is TTC24.
UniProtKB/Swiss-Prot Summary 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.