Rabbit anti-Human APTX Polyclonal Antibody

Uniprot Id

Q7Z2E3

Target Species

Human

Target Name

APTX

Target Full Name

Aprataxin

Target Function

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. Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA).

Target Involvement

Ataxia-oculomotor apraxia syndrome (AOA)

Target Subcellular Location

Nucleus, nucleoplasm. Nucleus, nucleolus.; [Isoform 12]: Cytoplasm.

Target Tissue Specificity

Widely expressed; detected in liver, kidney and lymph node (at protein level). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level). Widely expressed; detected throughout the brain, in liver, kidney

Target Synonyms

AOA 1; AOA; AOA1; Aprataxin; Aprataxin homolog; Aptx; APTX_HUMAN; Ataxia 1 early onset with hypoalbuminemia; Ataxia1 early onset with hypoalbuminemia; AXA 1; AXA1; EAOH; EOAHA; FHA HIT; FHA-HIT; FLJ20157; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like protein; Forkhead-associated domain histidine triad-like protein; MGC1072

Target Background

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.