Rabbit anti Human Aprataxin

Antibody can be used for Western blotting (1-5 mg/ml). Optimal concentration should be evaluated by serial dilutions.

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.

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.

See vial for concentration

Signal Transduction

Provided as solution in phosphate buffered saline with 0.08% sodium azide

Western Blotting

Synthetic peptide derived from the human aprataxin protein.

Human lung tissue

Unconjugated

Products are stable for one year from purchase when stored properly

Ammonium Sulfate Precipitation

Forkhead-associated domain histidine triad-like protein; FHA-HIT; APTX; AXA1

Q7Z2E3