Recombinant Mouse Rapsyn protein (denatured) (ab176072)
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Description
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Product name
Recombinant Mouse Rapsyn protein (denatured)
See all Rapsyn proteins and peptides -
Purity
> 85 % SDS-PAGE. -
Expression system
Escherichia coli -
Accession
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Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Mouse -
Sequence
MGSSHHHHHH SSGLVPRGSH MGSMGQDQTK QQIEKGLQLY QSNQTEKALQ VWMKVLEKGS DLVGRFRVLG CLVTAHSEMG RYKEMLKFAV VQIDTARGLE DADFLLESYL NLARSNEKLC EFHKTISYCK TCLGLPGTRA GAQLGGQVSL SMGNAFLGLS LFQKALESFE KALRYAHNND DTMLECRVCC SLGSFYAQVK DYEKALFFPC KAAELVNDYG KGWSLKYRAM SQYHMAVAYR LLGHLGSAME CCEESMKIAL QHGDRPLQAL CLLCFADIHR SRGDLETAFP RYDSAMSIMT EIGNRLGQVH VLLGVAKCWM ARKVQDKALD AIEKAQDLAE EVGNKLSQLK LHCLSESIYR SKGLQRELRT HVVRFHECVE ETELYCGLCG ESIGERNSRL QALPCSHIFH LRCLQNNGTR SCPNCRRSSM KPGFV -
Predicted molecular weight
49 kDa including tags -
Amino acids
1 to 412 -
Tags
His tag N-Terminus -
Additional sequence information
NP_033049.
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Description
Recombinant Mouse Rapsyn protein
Associated products
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Related Products
Specifications
Our Abpromise guarantee covers the use of ab176072 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
SDS-PAGE
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Form
Liquid -
Concentration information loading...
Preparation and Storage
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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.
General Info
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Alternative names
- 43 kD receptor associated protein of the synapse
- 43 kDa postsynaptic protein
- 43 kDa receptor-associated protein of the synapse
see all -
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. - Information by UniProt
Images
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SDS-PAGE - Recombinant Mouse Rapsyn protein (denatured) (ab176072)15% SDS-PAGE analysis of ab176072 (3μg).
Datasheets and documents
References
ab176072 has not yet been referenced specifically in any publications.
