• Product name

    Recombinant Human Aprataxin protein
    See all Aprataxin proteins and peptides
  • Purity

    > 90 % SDS-PAGE.

  • Expression system

    Escherichia coli
  • Accession

  • Protein length

    Full length protein
  • Animal free

  • Nature

    • Species

    • Tags

      His-T7 tag N-Terminus


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


    Mass Spectrometry

  • Form

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

    pH: 8.00
    Preservative: 0.002% Sodium azide
    Constituents: 0.1% Triton-X-100, 0.154% DTT, 0.121% Tris

General Info

  • Alternative names

    • AOA
    • AOA 1
    • AOA1
    • Aprataxin
    • Aprataxin homolog
    • Aptx
    • 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


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


ab40478 has not yet been referenced specifically in any publications.

Customer reviews and Q&As


The protein ab40478 correspond to isoform D of Aprataxin and is 168 amino acid long. The sequence is

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

Correspond to isoform 2 -

Read More

For licensing inquiries, please contact

Sign up