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anti-RAPSYN antibody :: Rabbit anti-Human, Mouse RAPSYN Polyclonal Antibody

Scan QR to view Datasheet Catalog #    MBS242144
Immunohistochemistry (IHC)
Unit / Price
0.05 mg  /  $495 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

RAPSYN, Polyclonal Antibody

 Also Known As   

Rabbit Polyclonal to Human RAPSYN

 Product Synonym Names    Anti-RAPSYN Antibody (aa395-412) IHC-plus; RAPSN; 43 kDa postsynaptic protein; CMS1D; CMS1E; RING finger protein 205; RAPSYN; RNF205; Human RAPSYN
 Product Gene Name   

anti-RAPSYN antibody

[Similar Products]
 Product Synonym Gene Name    RAPSN [Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 OMIM    gene 608931
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 Clonality    Polyclonal
 Host    Rabbit
 Species Reactivity    Human, Mouse
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 Specificity    Synthetic peptide corresponding to C-terminal residues of human RAPSN (43 kD receptor-associated protein of the synapse).
 Purity/Purification    Immunoaffinity Purified
 Form/Format    PBS, 0.01% sodium azide, 50% glycerol.
 Concentration    0.5 mg/ml (lot specific)
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 Target Species    Human
 Immunogen Description    Synthetic peptide from human RAPSN / RAPSYN.
 Immunogen Type    Synthetic peptide
 Immunogen    RAPSYN antibody was raised against synthetic peptide from human RAPSN / RAPSYN.
 Antigen Modification    aa395-412
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 Preparation and Storage    +4 degree C or -20 degree C, Avoid repeated freezing and thawing.
 Other Notes    Small volumes of anti-RAPSYN antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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 Applications Tested/Suitable for anti-RAPSYN antibody   

Immunohistochemistry (IHC - Paraffin), Western Blot (WB), ELISA (EIA)

 Application Notes for anti-RAPSYN antibody    ELISA, IHC-P (10 - 20 ug/ml), WB (1 ug/ml)
Usage: Immunohistochemistry: was validated for use in immunohistochemistry on a panel of 21 formalin-fixed, paraffin-embedded (FFPE) human tissues after heat induced antigen retrieval in pH 6.0 citrate buffer. After incubation with the primary anti...
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 Immunohistochemistry (IHC) of anti-RAPSYN antibody    Anti-RAPSN / RAPSYN antibody IHC of human skeletal muscle. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody concentration 20 ug/ml.
anti-RAPSYN antibody Immunohistochemistry (IHC) (IHC) image
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NCBI/Uniprot data below describe general gene information for RAPSYN. It may not necessarily be applicable to this product.
 NCBI GI #    38045928
 NCBI GeneID    5913
 NCBI Accession #    NP_116034.2 [Other Products]
 NCBI GenBank Nucleotide #    NM_032645.4 [Other Products]
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 UniProt Secondary Accession #    Q8TDF3; Q9BTD9 [Other Products]
 UniProt Related Accession #    Q13702 [Other Products]
 Molecular Weight    39,912 Da
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 NCBI Official Full Name    43 kDa receptor-associated protein of the synapse isoform 2
 NCBI Official Synonym Full Names    receptor-associated protein of the synapse
 NCBI Official Symbol    RAPSN [Similar Products]
 NCBI Official Synonym Symbols   
RAPSYN; RNF205
[Similar Products]
 NCBI Protein Information    43 kDa receptor-associated protein of the synapse; RING finger protein 205; 43 kda postsynaptic protein; acetylcholine receptor-associated 43 kda protein
 UniProt Protein Name    43 kDa receptor-associated protein of the synapse
 UniProt Synonym Protein Names   
43 kDa postsynaptic protein; Acetylcholine receptor-associated 43 kDa protein; RING finger protein 205
 UniProt Gene Name    RAPSN [Similar Products]
 UniProt Synonym Gene Names    RNF205; RAPsyn [Similar Products]
 UniProt Entry Name    RAPSN_HUMAN
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 NCBI Summary for RAPSYN    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]
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 UniProt Comments for RAPSYN    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: Golgi apparatus; centrosome; postsynaptic membrane; cytoplasm; plasma membrane; cell junction; neuromuscular junction

Molecular Function: ionotropic glutamate receptor binding; zinc ion binding; protein anchor; acetylcholine receptor binding

Biological Process: synaptic transmission; positive regulation of neuron apoptosis; synaptic transmission, cholinergic

Disease: Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency; Fetal Akinesia Deformation Sequence
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 Research Articles on RAPSYN    1. Two siblings affected with typical congenital myasthenic syndrome harbor the common heterozygous (-38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT, causing an insertion of threonine in the TPR6 domain.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with anti-RAPSYN antibodyDiseases associated with anti-RAPSYN antibody
 Reference Product  PubMed Publications
 DOK7 antibody  >11 publications with RAPSYN and DOK7
 MUSK antibody  >6 publications with RAPSYN and MUSK
 CHRNB1 antibody  >5 publications with RAPSYN and CHRNB1
 AGRN antibody  >3 publications with RAPSYN and AGRN
 Disease Name  Pubmed Publications
 Muscular Diseases Antibodies  >4 publications with RAPSYN and Muscular Diseases
 Autoimmune Diseases Antibodies  >3 publications with RAPSYN and Autoimmune Diseases
 Edema Antibodies  >2 publications with RAPSYN and Edema
 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Antibodies  >2 publications with RAPSYN and MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
 Cognition Disorders Antibodies  >1 publications with RAPSYN and Cognition Disorders
 Pena Shokeir syndrome, type 1 Antibodies  >1 publications with RAPSYN and Pena Shokeir syndrome, type 1
Organs/Tissues associated with anti-RAPSYN antibody
 Organ/Tissue Name  Pubmed Publications
 Muscle Antibodies  >28 publications with RAPSYN and Muscle
 Lung Antibodies  >1 publications with RAPSYN and Lung
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