AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT

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

Polyclonal

IgG

Rabbit

Affinity Purification

Store at -20°C. Avoid freeze / thaw cycles.

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.

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.

Polyclonal

WB, IF, IP

WB: 1:500 - 1:2000
IF: 1:50-1:100
IP 1:20-1:50

Western blot analysis of extracts of various cell lines, using APTX antibody at 1:1000 dilution.
Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.
Lysates/proteins: 25ug per lane.
Blocking buffer: 3% nonfat dry milk in TBST.

Immunofluorescence analysis of A549 cells using APTX antibody.

Immunoprecipitation analysis of 150ug extracts of A549 cells using 3ug APTX antibody. Western blot was performed from the immunoprecipitate using APTX antibody at a dilition of 1:500.

aprataxin

aprataxin; forkhead-associated domain histidine triad-like protein

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

Chromosomal Location of Human Ortholog: 9p13.3

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

Molecular Function: protein binding; DNA 5'-adenosine monophosphate hydrolase activity; phosphoglycolate phosphatase activity; polynucleotide 3'-phosphatase activity; metal ion binding; double-stranded DNA binding; double-stranded RNA binding; damaged DNA binding; phosphoprotein binding; protein N-terminus binding; chromatin binding

Biological Process: single strand break repair; response to hydrogen peroxide; dephosphorylation; double-strand break repair; regulation of protein stability; DNA catabolic process, exonucleolytic; response to DNA damage stimulus; DNA ligation

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

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