Rabbit anti Human Aprataxin

• Background:

  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-NH2) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. Protein is widely expressed. Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome, an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. Also a cause of coenzyme Q10 deficiency. 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. Coenzyme Q10 deficiency due to APTX mutations is typically associated with cerebellar ataxia.

• Synonyms:

  Forkhead-associated Domain histidine triad-like Protein, FHA-HIT, APTX, AXA1

• UniProt:

  Q7Z2E3

• Host:

  Rabbit

• Species Reactivity:

  Human, Rat, Mouse

• Conjugation:

  Affinity Purified

• Type:

  Antigen Immunoaffinity Purified Polyclonal

• Applications:

  WB, ELISA

• Field of Research:

  Signal Transduction

• Purification Method:

  Antigen Immunoaffiinity Purification

• Assay Principle:

  Antibody can be used for Western blotting (1:400 dilution). Optimal concentration should be evaluated by serial dilutions.

• Stability:

  See expiration date on vial

• Concentration:

  See vial for Concentration

• Form:

  Provided as solution in phosphate buffered saline with 0,08% sodium azide

• Precautions:

  This product is intended FOR RESEARCH USE ONLY, and FOR TESTS IN VITRO, not for use in diagnostic or therapeutic procedures involving Humans or animals.

• References & Citations:

  1. Ahel, I., et al. 'The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.' Nature 2006, 443, 713-716. 2. Kijas, A.W., et al. 'Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.' J. Biol. Chem. 2006, 281, 13939-13948. 3. Rass, U., et al. 'Actions of aprataxin in multiple DNA repair pathways.' J. Biol. Chem. 2007, 282, 9469-9474. 4. Rass, U., et al. 'Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.' J. Biol. Chem. 2008, 283, 33994-34001.

• Shipping Conditions:

  Ambient Temperature, freeze upon arrival

• Storage Conditions:

  Product should be stored at -20ºC; Aliquot to avoid freeze/thaw cycles

• Functional Analysis:

  WB

• CAS Number:

  9007-83-4