Long description 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.
Antibody come from Synthetic peptide derived from the N-terminal of the beta-actin protein.
Other description Provided as solution in phosphate buffered saline with 0.08% sodium azide. Antigen Immunoaffiinity Purification
Antigen-antibody binding interaction Rabbit anti Aprataxin Antibody
Antibody is raised in Rabbit
Antibody's reacts with Human, Rat, Mouse
Antibody's reacts with these species This antibody doesn't cross react with other species
Antibody's specificity No Data Available
Application Western blotting, ELISA
Antibody's suited for Antibody can be used for Western blotting (1-5 µg/ml) and immunohistochemsitry on paraffin-embedded tissues (10 µg/ml), Optimal concentration should be evaluated by serial dilutions.
Relevant references 1. Ponte P., Ng S.Y., Engel J., Gunning P., Kedes L., Evolutionary conservation in the untranslated regions of actin mRNAs: DNA sequence of a human beta-actin cDNA._x000B_Nucleic Acids Res. 12:1687-1696(1984)_x000B__x000B_2. Nakajima-Iijima S., Hamada H., Reddy P., Kakunaga T.,Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns._x000B_Proc. Natl. Acad. Sci. U.S.A. 82:6133-6137(1985)_x000B__x000B_3. Procaccio V., Salazar G., Ono S., Styers M.L., Gearing M., Davila A., Jimenez R., Juncos J., Gutekunst C.-A., Meroni G., Fontanella B., Sontag E., Sontag J.-M., Faundez V., Wainer B.H. A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am. J. Hum. Genet. 78:947-960(2006) [PubMed: 16685646] [Abstract]
Protein number see ncbi
Warnings 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. This datasheet is as accurate as reasonably achievable, but Nordic-MUbio accepts no liability for any inaccuracies or omissions in this information.
About Rabbits are used for polyclonal antibody production by nordc. Rabbit antibodies are very stable and can be stored for several days at room temperature. nordc adds sodium azide and glycerol to enhance the stability of the rabbit polyclonal antibodies. Anti-human, anti mouse antibodies to highly immunogenic selected peptide sequences are" monoclonal like" since the epitope to which they are directed is less than 35 amino acids long.