Recombinant Human Gephyrin protein (ab153064)

Overview

  • Product name
    Recombinant Human Gephyrin protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      RKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTG NQMSSRLMSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL
    • Amino acids
      677 to 769
    • Tags
      proprietary 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
    Protein concentration is above or equal to 0.05 mg/ml.
  • 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.
  • Information by UniProt

Images

  • ab153064 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab153064 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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