catalog number :
MBS9126730
products full name :
APTX Polyclonal Antibody
products short name :
[APTX]
products name syn :
[AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT]
other names :
[Aprataxin; Aprataxin; aprataxin; forkhead-associated domain histidine triad-like protein; aprataxin; Forkhead-associated domain histidine triad-like protein; FHA-HIT]
products gene name :
[APTX]
other gene names :
[APTX; APTX; AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT; AXA1; FHA-HIT]
uniprot entry name :
APTX_HUMAN
reactivity :
Human, Mouse
purity :
Affinity Purification
storage stability :
Store at -20°C. Avoid freeze / thaw cycles.
tested application :
WB, IF, IP
app notes :
WB: 1:500 - 1:2000. IF: 1:50-1:100. IP 1:20-1:50
image1 heading :
Western Blot (WB)
image2 heading :
Immunofluorescence (IF)
image3 heading :
Immunoprecipitation (IP)
other info1 :
Immunogen: Recombinant funsion protein containing a sequence corresponding to amino acids 93-342 of human APTX (NP_001182178.1). Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. Calculated MW: 5kDa/13 kDa/19-40 kDa. Observed MW: 40 kDa.
products categories :
Polyclonal
products description :
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.
ncbi summary :
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]
uniprot summary :
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