Overview

  • Product name
  • Description
    Chicken polyclonal to Aprataxin
  • Specificity
    Cross reacts with isoforms a, b and C.
  • Tested applications
    Suitable for: WBmore details
  • Species reactivity
    Reacts with: Mouse, Rat, Human
  • Immunogen

    Recombinant fragment, corresponding to amino acids 1-168 of Human Aprataxin.

Properties

Applications

Our Abpromise guarantee covers the use of ab13994 in the following tested applications.

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

Application Abreviews Notes
WB 1/500. Predicted molecular weight: 39 kDa.

Target

  • 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
  • Database links
  • Alternative names
    • AOA 1 antibody
    • AOA antibody
    • AOA1 antibody
    • Aprataxin antibody
    • Aprataxin homolog antibody
    • Aptx antibody
    • APTX_HUMAN antibody
    • Ataxia 1 early onset with hypoalbuminemia antibody
    • Ataxia1 early onset with hypoalbuminemia antibody
    • AXA 1 antibody
    • AXA1 antibody
    • EAOH antibody
    • EOAHA antibody
    • FHA HIT antibody
    • FHA-HIT antibody
    • FLJ20157 antibody
    • Forkhead associated domain histidine triad like antibody
    • Forkhead associated domain histidine triad like protein antibody
    • Forkhead-associated domain histidine triad-like protein antibody
    • MGC1072 antibody
    see all

Images

  • E coli-derived fusion protein as test antigen. Affi-pure IgY dilution: 1/2000, Goat anti-IgY-HRP dilution: 1/1000. Colorimetric method for signal development.

References

ab13994 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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