APTX, Polyclonal Antibody

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

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

>95%, Protein G purified

Liquid

Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-APTX antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.

ELISA (EIA)

21,389 Da

aprataxin

aprataxin

Aprataxin

AXA1; FHA-HIT  [Similar Products]

APTX_HUMAN

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.[provided by RefSeq, Aug 2010]

APTX: 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-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA). AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. 13 isoforms of the human protein are produced by alternative splicing.

Protein type: C2H2-type zinc finger protein; DNA repair, damage; EC 3.-.-.-; Nucleolus; Phosphatase (non-protein); RNA-binding

Chromosomal Location of Human Ortholog: 9p13.3

Cellular Component: chromatin; nuclear chromatin; nucleolus; nucleoplasm; nucleus

Molecular Function: chromatin binding; damaged DNA binding; DNA 5'-adenosine monophosphate hydrolase activity; double-stranded DNA binding; double-stranded RNA binding; phosphoglycolate phosphatase activity; phosphoprotein binding; protein binding; protein N-terminus binding

Biological Process: regulation of protein stability; response to DNA damage stimulus; response to hydrogen peroxide; single strand break repair

Disease: Ataxia, Early-onset, With Oculomotor Apraxia And Hypoalbuminemia

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