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Products:Neuroscience >> Neurotransmission >> Receptors / Channels >> Ligand-Gated Ion Channels >> nAch Receptors
Overview
Product name
Anti-Rapsyn antibody
See all Rapsyn products (4) ...
Description
Rabbit polyclonal to Rapsyn
Tested applications
WB, ELISAmore details
Cross reactivity
Reacts with
Recombinant Fragment
Predicted to work with
Mouse, Rat, Human
Immunogen
A synthetic peptide corresponding to C terminal residues of human Rapsyn
Properties
Form
Liquid
Storage instructions
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Storage buffer
Preservative: 0.01% Sodium Azide
Constituents: 50% Glycerol, PBS
Concentration
Concentration information loading...
Purity
Immunogen affinity purified
Purification notes
Purified by antigen specific affinity chromatography.
Clonality
Polyclonal
Isotype
IgG
Research areas
Neuroscience >> Neurotransmission >> Receptors / Channels >> Ligand-Gated Ion Channels >> nAch Receptors
Applications
Show applications key
Our Abpromise guarantee covers the use of ab58662 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
WB: Use a concentration of 1 µg/mlPredicted molecular weight: 46 kDa.(This antibody has been tested in Western blot against the recombinant peptide used as an immunogen. We have no data on detection of endogenous protein.)
ELISA: Use at an assay dependent dilution.
Target
Function
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.
Sequence similarities
Belongs to the RAPsyn family.
Contains 1 RING-type zinc finger.
Contains 7 TPR repeats.
Domain
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.
Cellular localization
Cell membrane. Cell junction > synapse > postsynaptic cell membrane. Cytoplasm > cytoskeleton. Cytoplasmic surface of postsynaptic membranes.
Target information above from: UniProt accessionQ13702
The UniProt Consortium
The Universal Protein Resource (UniProt) in 2010
Nucleic Acids Res. 38:D142-D148 (2010).
Alternative names
- 43 kD receptor associated protein of the synapse antibody
- 43 kda postsynaptic protein antibody
- 43 kDa receptor-associated protein of the synapse antibody
see all
Database links
- Entrez Gene: 5913 Human
- Entrez Gene: 19400 Mouse
- Entrez Gene: 362161 Rat
- Omim: 601592 Human
- SwissProt: Q13702 Human
- SwissProt: P12672 Mouse
- Unigene: 81218 Human
- Unigene: 1272 Mouse
see all
References for Anti-Rapsyn antibody (ab58662)
ab58662 has not yet been referenced specifically in any publications.
Publishing research using ab58662? Please let us know so that we can cite the reference in this datasheet
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"