Exalpha Biologicals, Inc.

Accelerating the Pace of Discovery
Exalpha Biologicals, Inc.

Aprataxin

  • Product Code: X2411P
  • Size: 100 µg
  • Price (USD): $244

Cat #

X2411P		 Quantity:      

Data Sheet

Product Name

Aprataxin

Synonyms

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

Host/Source

Rabbit

Product Type

Polyclonal Antibody

Reactivity

Human, Rat, Mouse

Applications

Western blotting, ELISA

Purification

Ammonium Sulfate Precipitation

Size

100 µg

Price (USD)

$244

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.

Immunogen

Synthetic peptide derived from the human aprataxin protein.

Positive Control

Human lung tissue

Formulation

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

Customer Storage

Product should be stored at -20°C. Aliquot to avoid freeze/thaw cycles

Target Molecular Weight

41 kDa

Product Image

Image Legend

Immunohistochemical staining of human lung tissue using Aprataxin antibody at 5 µg/ml

Database Links:

SwissProtQ7TQC5Mouse
SwissProtQ8K4H4Rat
SwissProtQ7Z2E3Human

References

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.