Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      ISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQEL LVHTAWNELKVVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLA
    • Molecular weight
      37 kDa including tags
    • Amino acids
      301 to 400

Associated products

Specifications

Our Abpromise guarantee covers the use of ab152547 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 µg/µl.
  • 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: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • CMS9
    • FADS
    • MDK 4
    • MDK4
    • MGC126323
    • MGC126324
    • Muscle
    • Muscle associated receptor tyrosine kinase
    • Muscle skeletal receptor tyrosine kinase
    • Muscle skeletal receptor tyrosine protein kinase
    • Muscle specific kinase receptor
    • Muscle specific tyrosine kinase receptor
    • Muscle specific tyrosine protein kinase receptor
    • Muscle-specific kinase receptor
    • Muscle-specific tyrosine-protein kinase receptor
    • MuSK
    • MUSK_HUMAN
    • Neural fold somite kinase 1
    • Neural fold somite kinase 2
    • Neural fold somite kinase 3
    • Neural fold somite kinase1
    • Neural fold somite kinase2
    • Neural fold somite kinase3
    • Nsk 1
    • Nsk 2
    • Nsk 3
    • Nsk1
    • Nsk2
    • Nsk3
    • Receptor tyrosine kinase MuSK
    • Skeletal muscle receptor tyrosine kinase
    • skeletal receptor tyrosine-protein kinase
    see all
  • Function
    Receptor tyrosine kinase that is a key mediator of agrin's action and is involved in neuromuscular junction (NMJ) organization.
  • Involvement in disease
    Defects in MUSK is a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]. A post-synaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance. Note=MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.
  • Sequence similarities
    Belongs to the protein kinase superfamily. Tyr protein kinase family.
    Contains 1 FZ (frizzled) domain.
    Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
    Contains 1 protein kinase domain.
  • Post-translational
    modifications
    Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation.
  • Cellular localization
    Membrane.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab152547 stained with Coomassie Blue.

References

ab152547 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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