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Mouse Anti-RAPSN Recombinant Antibody (1234) (CBMAB-0768CQ)

This product is a mouse antibody that recognizes RAPSN. The antibody 1234 can be used for immunoassay techniques such as: ICC, IF, IHC-Fr, IP, WB.
See all RAPSN antibodies
Published Data
Fig.1 Representative western blot of rapsyn and calpain proteins normalised to myosin loading in the EDL muscle of the NC and ALS groups.
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Fig.2 Representative z-projection of differentiated myofibers stained for α-BTX (red) and NFH or Rapsyn (green).
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Summary

Host Animal
Mouse
Specificity
Torpedo, Mouse, Rat, Chicken, Human, Frog, Fish, Amphibia, X. tropicalis
Clone
1234
Antibody Isotype
IgG1
Application
ICC, IF, IHC-Fr, IP, WB

Basic Information

Specificity
Torpedo, Mouse, Rat, Chicken, Human, Frog, Fish, Amphibia, X. tropicalis
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Receptor Associated Protein Of The Synapse
Introduction
This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.
Entrez Gene ID
Human5913
Mouse19400
Rat362161
Cattle541061
Frog448160
UniProt ID
HumanQ13702
MouseP12672
RatD3ZPG2
CattleE1BJL1
FrogQ6GL21
Alternative Names
FADS; CMS11; CMS4C; RAPSYN; RNF205
Function
Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.
Biological Process
Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process establishment of protein localization to postsynaptic membraneIEA:Ensembl
Biological Process motor neuron apoptotic processIEA:Ensembl
Biological Process positive regulation of motor neuron apoptotic processIEA:Ensembl
Biological Process positive regulation of neuromuscular synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of postsynaptic membrane organizationIEA:Ensembl
Biological Process synaptic transmission, cholinergicManual Assertion Based On ExperimentIGI:MGI
Cellular Location
Cell membrane
Postsynaptic cell membrane
Cytoplasm, cytoskeleton
Cytoplasmic surface of postsynaptic membranes.
Involvement in disease
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11):
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.
Fetal akinesia deformation sequence 2 (FADS2):
A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS2 inheritance is autosomal recessive.
PTM
Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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