The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Preparation and Storage
Stability and Storage
Shipped 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.
Information available upon request.
43 kD receptor associated protein of the synapse
43 kDa postsynaptic protein
43 kDa receptor-associated protein of the synapse
Acetylcholine receptor associated 43 kda protein
Acetylcholine receptor-associated 43 kDa protein
Receptor associated protein of the synapse
Receptor associated protein of the synapse 43kD
RING finger protein 205
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.
Involvement in disease
Defects 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.
Belongs to the RAPsyn family. Contains 1 RING-type zinc finger. Contains 7 TPR repeats.
A 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.