Product Name
Aprataxin (APTX), Recombinant Protein
Full Product Name
Aprataxin, 1-168aa, Human, His tag, E. coli
Product Synonym Names
APTX; AXA1; AOA; AOA 1; AOA1; Aprataxin homolog; Ataxia 1 early onset with hypoalbuminemia; Ataxia1 early onset with hypoalbuminemia; AXA 1; EAOH; EOAHA; FHA HIT; FLJ20157; MGC1072; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like protein.
Product Gene Name
APTX recombinant protein
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWAGSMQD PKMQVYKDEQ VVVIKDKYPK ARYHWLVLPW TSISSLKAVA REHLELLKHM HTVGEKVIVD FAGSSKLRFR LGYHAIPSMS HVHLHVISQD FDSPCLKNKK HWNSFNTEYF LESQAVIEMV QEAGRVTVRD GMPELLKLPL RCHECQQLLP SIPQLKEHLR KHWTQ
Purity/Purification
> 95% by SDS-PAGE
Form/Format
Liquid. 20mM Tris-HCl Buffer (pH 7.5) containing 20% glycerol, 100mM NaCl, 0.1mM PMSF
Concentration
0.25 mg/ml (determined by Bradford assay) (lot specific)
Preparation and Storage
Can be stored at 4 degree C short term (1-2 weeks).
For long term storage, aliquot and store at -20 degree C or -70 degree C.
Avoid repeated freezing and thawing cycles.
Other Notes
Small volumes of APTX recombinant protein 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.
Related Product Information for
APTX recombinant protein
Aprataxin is a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. Aprataxin may play a role in single-stranded DNA repair. Mutations in the gene have been associated with neurological disorder known as ataxia oculomotor apraxia-1. Recombinant Aprataxin protein was expressed in E Coli and purified by using conventional chromatography techniques.
Product Categories/Family for APTX recombinant protein
Neuroscience
Applications Tested/Suitable for APTX recombinant protein
SDS-PAGE
SDS-Page of APTX recombinant protein
NCBI/Uniprot data below describe general gene information for APTX. It may not necessarily be applicable to this product.
NCBI Accession #
NP_778241
[Other Products]
NCBI GenBank Nucleotide #
NM_175071.1
[Other Products]
UniProt Secondary Accession #
Q0P662; Q5T781; Q5T782; Q5T784; Q6JV81; Q6JV82; Q6JV85; Q7Z2F3; A8MTN4; D3DRK9; D3DRL0[Other Products]
UniProt Related Accession #
Q7Z2E3[Other Products]
Molecular Weight
23.9kDa (205aa), confirmed by MALDI-TOF. [Similar Products]
NCBI Official Synonym Full Names
aprataxin
NCBI Official Symbol
APTX??[Similar Products]
NCBI Official Synonym Symbols
AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
??[Similar Products]
NCBI Protein Information
aprataxin
UniProt Protein Name
Aprataxin
UniProt Synonym Protein Names
Forkhead-associated domain histidine triad-like protein; FHA-HIT
UniProt Gene Name
APTX??[Similar Products]
UniProt Synonym Gene Names
AXA1; FHA-HIT??[Similar Products]
NCBI Summary for APTX
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 Comments for APTX
DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). 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 (PubMed:16964241, PubMed:24362567). 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 (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH2) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) ().
Product References and Citations for APTX recombinant protein
Kijas A.W., et al (2006) J. Biol. Chem. 281:13939-13948; Rass u., et al. (2007) J. Biol. Chem. 282:9469-9474
Research Articles on APTX
1. T; p.Lys247*) that segregates with the phenotype.">Whole-exome sequencing on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia resulted in the identification of a homozygous novel stop-gain mutation in the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype.
Precautions
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Disclaimer
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