Recombinant Human Senataxin protein (ab153204)

Overview

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

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      VVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEE LCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKL
    • Amino acids
      2579 to 2676
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab153204 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

  • 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
    • ALS4
    • Amyotrophic lateral sclerosis 4 protein
    • AOA2
    • bA479K20.2
    • DKFZp781B151
    • FLJ12840
    • FLJ43459
    • KIAA0625
    • Probable helicase senataxin
    • SCAR1
    • SEN1 homolog
    • Setx
    • SETX_HUMAN
    see all
  • Function
    Probable helicase, which may be involved in RNA maturation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress.
  • Tissue specificity
    Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus).
  • Involvement in disease
    Defects in SETX are the cause of spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]; also known as ataxia-ocular apraxia 2. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia.
    Defects in SETX are a cause of amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]. ALS4 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms. ALS4 is a childhood- or adolescent-onset form characterized by slow disease progression and the sparing of bulbar and respiratory muscles.
  • Sequence similarities
    Belongs to the DNA2/NAM7 helicase family.
  • Cellular localization
    Nucleus > nucleoplasm. Nucleus > nucleolus. Cytoplasm. May be detected in the nucleolus only in cycling cells (By similarity). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus.
  • Information by UniProt

Images

  • ab153204 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab153204 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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