Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYY PRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTE SELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQ VETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNW GNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPK VLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF
    • Amino acids
      1 to 290
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab162725 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
    • Charcot Marie Tooth neuropathy 4A
    • CMT4
    • CMT4A
    • CMTRIA
    • Ganglioside induced differentiation associated protein 1
    • Ganglioside-induced differentiation-associated protein 1
    • GDAP1
    • GDAP1_HUMAN
    see all
  • Function
    May function in a signal transduction pathway responsible for ganglioside-induced neurite differentiation. May also have a role in protecting myelin membranes against free radical-mediated damage.
  • Tissue specificity
    Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells.
  • Involvement in disease
    Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]. CMT4A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are by convention designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence.
    Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease axonal recessive with vocal cord paresis (CMT2RV) [MIM:607706]. CMT2RV is a form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis.
    Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease type 2K (CMT2K) [MIM:607831]. CMT2K is an axonal form of Charcot-Marie-Tooth disease. Axonal CMT neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive.
    Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease recessive intermediate type A (CMTRIA) [MIM:608340]. CMTRIA is a form of Charcot-Marie-Tooth disease characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
  • Sequence similarities
    Belongs to the GST superfamily.
    Contains 1 GST C-terminal domain.
    Contains 1 GST N-terminal domain.
  • Cellular localization
    Cytoplasm.
  • Information by UniProt

Images

  • ab162725 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab162725 has not yet been referenced specifically in any publications.

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