Rabbit anti Human Aprataxin
Catalogue number: X2725P
|Product Type||Antigen Immunoaffinity Purified Polyclonal|
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
Immunogen: Synthetic peptide derived from the human aprataxin protein.
Product Form: Affinity Purified
Formulation: Provided as solution in phosphate buffered saline with 0.08% sodium azide
Purification Method: Antigen Immunoaffiinity Purification
Concentration: See vial for concentration
Antibody can be used for Western blotting (1:400 dilution). Optimal concentration should be evaluated by serial dilutions.
Functional Analysis: Western Blotting
Positive Control: Human lung tissue
Product should be stored at -20ºC. Aliquot to avoid freeze/thaw cycles
Product Stability: Products are stable for one year from purchase when stored properly
Ship Conditions: Ship at ambient temperature, freeze upon arrival
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.
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.
Database Name: UniProt
Accession number: Q7Z2E3
Species Accession: Human
Safety Datasheet(s) for this product:
Rabbit anti Human Aprataxin