Recombinant Human Huntingtin protein (ab112300)

Overview

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

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      AVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNSPEFQKLLGIA MELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNG APRSLRAALW
    • Molecular weight
      38 kDa including tags
    • Amino acids
      81 to 190
    • Tags
      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab112300 in the following tested applications.

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

  • Biological activity
    useful for Antibody Production and Protein Array
  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • Form
    Liquid
  • Additional notes
    useful for Antibody Production and Protein Array
  • 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: 0.79% Tris HCl, 0.31% Glutathione
    Note: Glutathione is reduced

General Info

  • Alternative names
    • AI256365
    • C430023I11Rik
    • HD
    • HD protein
    • HD_HUMAN
    • HDH
    • HTT
    • Huntingtin
    • HUNTINGTON CHOREA
    • Huntington disease protein
    • Huntington's disease protein homolog
    • IT 15
    • IT15
    • OTTMUSP00000026909
    • ZHD
    see all
  • Function
    May play a role in microtubule-mediated transport or vesicle function.
  • Tissue specificity
    Expressed in the brain cortex (at protein level). Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation.
  • Involvement in disease
    Defects in HTT are the cause of Huntington disease (HD) [MIM:143100]. HD is an autosomal dominant neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life and symptoms progressively worsen leading to death in 10 to 20 years. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. HD affects 1 in 10,000 individuals of European origin. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen (striatum).
  • Sequence similarities
    Belongs to the huntingtin family.
    Contains 10 HEAT repeats.
  • Domain
    The N-terminal Gln-rich and Pro-rich domain has great conformational flexibility and is likely to exist in a fluctuating equilibrium of alpha-helical, random coil, and extended conformations.
  • Post-translational
    modifications
    Cleaved by apopain downstream of the polyglutamine stretch. The resulting N-terminal fragment is cytotoxic and provokes apoptosis.
    Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomal degradation.
  • Cellular localization
    Cytoplasm. Nucleus. The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington's disease neurons.
  • Information by UniProt

Images

  • ab112300 analysed on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab112300 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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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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