RAPSN / Rapsyn Blocking Peptide | RAPSN blocking peptide
RAPSN / Rapsyn Immunizing Peptide
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
RAPSN: 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. Defects in RAPSN are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD). A postsynaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. Defects in RAPSN are the cause of fetal akinesia deformation sequence (FADS); 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell adhesion; Ubiquitin conjugating system; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 11p11.2
Cellular Component: cell junction; cytoskeleton; Golgi apparatus; neuromuscular junction; postsynaptic membrane
Molecular Function: acetylcholine receptor binding; ionotropic glutamate receptor binding; protein anchor; zinc ion binding
Biological Process: positive regulation of neuron apoptosis; synaptic transmission; synaptic transmission, cholinergic
Disease: Fetal Akinesia Deformation Sequence; Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Research Articles on RAPSN
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Product Notes
The RAPSN rapsn (Catalog #AAA426217) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. The RAPSN / Rapsyn Immunizing Peptide reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: YQSNQTEKAL QVWTK-C. It is sometimes possible for the material contained within the vial of "RAPSN / Rapsyn, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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