Receptor Associated Protein Of The Synapse (RAPSN)

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CMS1D; CMS1E; RNF205; Rapsyn; Acetylcholine receptor-associated 43 kDa protein; 43 kDa postsynaptic protein; RING finger protein 205

Receptor Associated Protein Of The Synapse (RAPSN)
43 kDa receptor-associated protein of the synapse is a protein belongs to a family of proteins that are receptor associated proteins of the synapse. It contains a conserved cAMP-dependent protein kinase phosphorylation site. It is believed to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Two splice variants have been identified for this gene.
Thought to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Receptor Associated Protein Of The Synapse (RAPSN)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Receptor Associated Protein Of The Synapse (RAPSN)CLIA Kit Customized Service Offer
n/aELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPC762Mu01Recombinant Receptor Associated Protein Of The Synapse (RAPSN)SDS-PAGE; WB; ELISA; IP.
RPC762Mu02Recombinant Receptor Associated Protein Of The Synapse (RAPSN)SDS-PAGE; WB; ELISA; IP.
AntibodiesPAC762Mu01Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN)WB, ICC, IHC-P, IHC-F, ELISA
PAC762Mu02Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN)WB, ICC, IHC-P, IHC-F, ELISA
Assay KitsSEC762MuELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN)Enzyme-linked immunosorbent assay

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Receptor Associated Protein Of The Synapse (RAPSN)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Receptor Associated Protein Of The Synapse (RAPSN)CLIA Kit Customized Service Offer
n/aELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN)ELISA Kit Customized Service Offer
  1. "Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1."Genomics 35:613-616(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome."Am. J. Hum. Genet. 70:875-885(2002) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Control of rapsyn stability by the CUL-3-containing E3 ligase complex."J. Biol. Chem. 284:8195-8206(2009) [PubMed] [Europe PMC] [Abstract]
  5. "Identification of pathogenic mutations in the human rapsyn gene."J. Hum. Genet. 48:204-207(2003) [PubMed] [Europe PMC] [Abstract]
  6. "Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering."Muscle Nerve 28:293-301(2003) [PubMed] [Europe PMC] [Abstract]
  7. "Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients."Neurology 60:1805-1810(2003) [PubMed] [Europe PMC] [Abstract]
  8. "Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes."Neurology 61:826-828(2003) [PubMed] [Europe PMC] [Abstract]
  9. "Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine."Neuromuscul. Disord. 14:202-207(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms."Neuropediatrics 35:246-249(2004) [PubMed] [Europe PMC] [Abstract]
  11. "Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations."Neurology 67:1159-1164(2006) [PubMed] [Europe PMC] [Abstract]
  12. "Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations."Clin. Genet. 72:63-65(2007) [PubMed] [Europe PMC] [Abstract]
  13. "Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients."Am. J. Hum. Genet. 82:222-227(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders." Am. J. Hum. Genet. 82:464-476(2008) [PubMed] [Europe PMC] [Abstract]