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| Cat.No | ACP19487 | Target Name | APTX |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Expression Range | 1-356 | Protein Length | Full length protein |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q7Z2E3 |
|---|
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.
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