Anti-APTX Antibody Picoband® Biotin Conjugated

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.

E.coli-derived human APTX recombinant protein (Position: E46-Q356) . Human APTXshares 84.8% and 80.9% amino acid (aa) sequence identity with mouse and rat APTX, respectively.

1. Ahel, I., Rass, U., El-Khamisy, S. F., Katyal, S., Clements, P. M., McKinnon, P. J., Caldecott, K. W., West, S. C. The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature 443: 713-716, 2006. 2. Amouri, R., Moreira, M.-C., Zouari, M., El Euch, G., Barhoumi, C., Kefi, M., Belal, S., Koenig, M., Hentati, F. Aprataxin gene mutations in Tunisian families Neurology 63: 928-929, 2004. 3. Castellotti, B., Mariotti, C., Rimoldi, M., Fancellu, R., Plumari, M., Caimi, S., Uziel, G., Nardocci, N., Moroni, I., Zorzi, G., Pareyson, D., Di Bella, D., Di Donato, S., Taroni, F., Gellera, C. Ataxia with oculomotor apraxia type 1 (AOA1) : novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics 12: 193-201, 2011.