Recombinant Human Aprataxin protein (ab40478)

Overview

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Tags
      His-T7 tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab40478 in the following tested applications.

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

  • Applications

    SDS-PAGE

    Mass Spectrometry

  • Purity
    > 90 % SDS-PAGE.

  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot. Store at -80°C. Avoid freeze / thaw cycle.

    Preservative: 0.002% Sodium Azide
    Constituents: 0.1% Triton-X-100, 10mM Tris, 10mM DTT, pH 8.0

General Info

  • Alternative names
    • AOA
    • AOA 1
    • AOA1
    • Aprataxin
    • Aprataxin homolog
    • Aptx
    • APTX_HUMAN
    • Ataxia 1 early onset with hypoalbuminemia
    • Ataxia1 early onset with hypoalbuminemia
    • AXA 1
    • AXA1
    • EAOH
    • EOAHA
    • FHA HIT
    • FHA-HIT
    • FLJ20157
    • Forkhead associated domain histidine triad like
    • Forkhead associated domain histidine triad like protein
    • Forkhead-associated domain histidine triad-like protein
    • MGC1072
    see all
  • Function
    DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.
  • Tissue specificity
    Widely expressed. In brain, it is expressed in the posterior cortex, cerebellum, hippocampus and olfactory bulb. Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2.
  • Involvement in disease
    Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]. AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.
    Defects in APTX are a cause of coenzyme Q10 deficiency (COQ10D) [MIM:607426]. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations. It can be associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction and an ataxic form with cerebellar atrophy.
  • Sequence similarities
    Contains 1 C2H2-type zinc finger.
    Contains 1 FHA-like domain.
    Contains 1 HIT domain.
  • Domain
    The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.
    The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.
    The HIT domain is required for enzymatic activity.
    The C2H2-type zinc finger mediates DNA-binding.
  • Cellular localization
    Nucleus > nucleoplasm. Nucleus > nucleolus. Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage. Colocalizes with MDC1 at sites of DNA double-strand breaks. Interaction with NCL is required for nucleolar localization.
  • Information by UniProt

Recombinant Human Aprataxin protein images

  • 4-20% SDS gradient gel. Coomassie blue staining.

References for Recombinant Human Aprataxin protein (ab40478)

ab40478 has not yet been referenced specifically in any publications.

Product Wall

The protein ab40478 correspond to isoform D of Aprataxin and is 168 amino acid long. The sequence is http://www.ncbi.nlm.nih.gov/protein/NP_060162.1?report=genpept.

Please note the protein has T7 tag at N-terminus end.

Correspond to...

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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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