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Recombinant Human Gephyrin protein (ab153064)

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SDS-PAGE - Recombinant Human Gephyrin protein (ab153064)

    Key features and details

    • Expression system: Wheat germ
    • Tags: GST tag N-Terminus
    • Suitable for: ELISA, WB

    Description

    • Product name

      Recombinant Human Gephyrin protein
    • Expression system

      Wheat germ
    • Protein length

      Protein fragment
    • Animal free

      No
    • Nature

      Recombinant
      • Species

        Human
      • Sequence

        RKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTG NQMSSRLMSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL
      • Amino acids

        677 to 769
      • Tags

        GST tag N-Terminus

    Specifications

    Our Abpromise guarantee covers the use of ab153064 in the following tested applications.

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

    • Applications

      ELISA

      Western blot

    • Form

      Liquid
    • Additional notes

       

       

    • 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

      • Domain E
      • Domain G
      • GEPH
      • GEPH_HUMAN
      • GPH
      • GPHN
      • GPHRYN
      • KIAA1385
      • Molybdopterin molybdenumtransferase
      • MPT adenylyltransferase
      • MPT Mo-transferase
      see all
    • Function

      Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.
    • Pathway

      Cofactor biosynthesis; molybdopterin biosynthesis.
    • Involvement in disease

      Defects in GPHN are the cause of molybdenum cofactor deficiency type C (MOCOD type C) [MIM:252150]. MOCOD type C is an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood death.
      Defects in GPHN are a cause of startle disease (STHE) [MIM:149400]; also known as hyperekplexia. STHE is a genetically heterogeneous neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.
    • Sequence similarities

      In the N-terminal section; belongs to the moaB/mog family.
      In the C-terminal section; belongs to the moeA family.
    • Cellular localization

      Cell junction > synapse. Cell junction > synapse > postsynaptic cell membrane. Cytoplasm > cytoskeleton. Cytoplasmic face of glycinergic postsynaptic membranes.
    • Target information above from: UniProt accession Q9NQX3 The UniProt Consortium
      The Universal Protein Resource (UniProt) in 2010
      Nucleic Acids Res. 38:D142-D148 (2010) .

      Information by UniProt

    Images

    • SDS-PAGE - Recombinant Human Gephyrin protein (ab153064)
      SDS-PAGE - Recombinant Human Gephyrin protein (ab153064)
      ab153064 on a 12.5% SDS-PAGE stained with Coomassie Blue.

    Protocols

    To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.

    Click here to view the general protocols

    Datasheets and documents

    • Datasheet
  • References (0)

    Publishing research using ab153064? Please let us know so that we can cite the reference in this datasheet.

    ab153064 has not yet been referenced specifically in any publications.

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