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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)
CCC C762
HGNC 9863
MGI 99422
PubMed 15036330
RGD 1311592
UniProt Q13702
Wiki 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 NAME APPLICATIONS
Proteins n/a Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC762Mu01 Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
RPC762Mu02 Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC762Mu01 Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
PAC762Mu02 Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
Assay Kits SEC762Mu ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA Kit Customized Service Offer
n/a ELISA 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]