Recombinant Human Rapsyn protein (ab114714)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      QDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEETELY CGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV
    • Molecular weight
      37 kDa including tags
    • Amino acids
      313 to 412

Specifications

Our Abpromise guarantee covers the use of ab114714 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml. Best use within three months from the date of receipt of this protein.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • 43 kD receptor associated protein of the synapse
    • 43 kDa postsynaptic protein
    • 43 kDa receptor-associated protein of the synapse
    • Acetylcholine receptor associated 43 kda protein
    • Acetylcholine receptor-associated 43 kDa protein
    • CMS1D
    • CMS1E
    • MGC3597
    • RAPSN
    • RAPSN_HUMAN
    • RAPsyn
    • Receptor associated protein of the synapse
    • Receptor associated protein of the synapse 43kD
    • RING finger protein 205
    • RNF 205
    • RNF205
    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

  • 12.5% SDS-PAGE showing ab114714 at approximately 36.63 kDa stained with Coomassie Blue.

References

ab114714 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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