Key features and details
- Mouse monoclonal  to Rapsyn
- Reacts with: Mouse, Rat, Chicken, Human, Xenopus laevis, Fish, Amphibian, Xenopus tropicalis
- Isotype: IgG1
Product nameAnti-Rapsyn antibody 
See all Rapsyn primary antibodies
DescriptionMouse monoclonal  to Rapsyn
Species reactivityReacts with: Mouse, Rat, Chicken, Human, Xenopus laevis, Fish, Amphibian, Xenopus tropicalis
Other Immunogen Type corresponding to Rapsyn. Whole purified rapsyn from Torpedo californica electric organ postsynaptic membrane.
- Torpedo californica electrocyte cell extracts.
Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
Storage bufferPreservative: 0.05% Sodium azide
Constituents: 99% PBS, 0.1% BSA
Concentration information loading...
PurityProtein G purified
FunctionThought 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.
Involvement in diseaseDefects in RAPSN are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]. ACHRDCMS is a post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. Postsynaptic disorders result from mutations in proteins forming the subunits of the muscle acetylcholine receptor (AChR). The kinetic abnormalities of AChR result in either prolonged ion channel activations that underlie 'slow-channel myasthenic syndromes' (SCCMS) or abbreviated channel activations that underlie the abnormally rapid decay of endplate currents in 'fast-channel syndromes' (FCCMS). ACHRDCMS is the third disorder associated with postsynaptic CMS which could result from mutations in the proteins forming the muscle AChR. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance.
Defects in RAPSN are the cause of fetal akinesia deformation sequence (FADS) [MIM:208150]; also known as Pena-Shokeir syndrome type 1 or fetal akinesia sequence or arthrogryposis multiplex congenita with pulmonary hypoplasia. FADS is a rare condition characterized by decreased intrauterine fetal movement, congenital limb contractures, pulmonary hypoplasia, polyhydramnios and craniofacial abnormalities.
Sequence similaritiesBelongs to the RAPsyn family.
Contains 1 RING-type zinc finger.
Contains 7 TPR repeats.
DomainA cysteine-rich region homologous to part of the regulatory domain of protein kinase C may be important in interactions of this protein with the lipid bilayer.
Cellular localizationCell membrane. Cell junction > synapse > postsynaptic cell membrane. Cytoplasm > cytoskeleton. Cytoplasmic surface of postsynaptic membranes.
- Information by UniProt
- 43 kD receptor associated protein of the synapse antibody
- 43 kDa postsynaptic protein antibody
- 43 kDa receptor-associated protein of the synapse antibody
ab11423 has been referenced in 8 publications.
- Wu S et al. Two Pathways Regulate Differential Expression of nAChRs Between the Orbicularis Oris and Gastrocnemius. J Surg Res 243:130-142 (2019). PubMed: 31174064
- Shanmukha S et al. Sporadic amyotrophic lateral sclerosis (SALS) - skeletal muscle response to cerebrospinal fluid from SALS patients in a rat model. Dis Model Mech 11:N/A (2018). PubMed: 29666144
- Aare S et al. Failed reinnervation in aging skeletal muscle. Skelet Muscle 6:29 (2016). PubMed: 27588166
- Vilmont V et al. A system for studying mechanisms of neuromuscular junction development and maintenance. Development 143:2464-77 (2016). PubMed: 27226316
- Vilmont V et al. Dynein disruption perturbs post-synaptic components and contributes to impaired MuSK clustering at the NMJ: implication in ALS. Sci Rep 6:27804 (2016). PubMed: 27283349
- Vogt J et al. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet 82:222-7 (2008). PubMed: 18179903
- Cossins J et al. Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. Brain 129:2773-83 (2006). WB ; Human . PubMed: 16945936
- Stetzkowski-Marden F et al. Agrin elicits membrane lipid condensation at sites of acetylcholine receptor clusters in C2C12 myotubes. J Lipid Res 47:2121-33 (2006). WB ; Mouse . PubMed: 16816402