Product Name
APTX, cDNA Clone
Full Product Name
APTX cDNA Clone
Product Gene Name
APTX cdna clone
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
ATGGTGAATG AACTTTATCC ATATATTGTA GAGTTTGAGG AAGAGGCAAA GAACCCTGGC CTGGAAACAC ACAGGAAGAG AAAGAGATCA GGCAACAGTG ATTCTATAGA AAGGGATGCT GCTCAGGAAG CTGAGGCTGG GACAGGGCTG GAACCTGGGA GCAACTCTGG CCAATGCTCT GTGCCCCTAA AGAAGGGAAA AGATGCACCT ATCAAAAAGG AATCCCTGGG CCACTGGAGT CAAGGCTTGA AGATTTCTAT GCAGGACCCC AAAATGCAGG TTTACAAAGA TGAGCAGGTG GTGGTGATAA AGGATAAATA CCCAAAGGCC CGTTACCATT GGCTGGTCTT ACCGTGGACC TCCATTTCCA GTCTGAAGGC TGTGGCCAGG GAACACCTTG AACTCCTTAA GCATATGCAC ACTGTGGGGG AAAAGGTGAT TGTAGATTTT GCTGGGTCCA GCAAACTCCG CTTCCGATTG GGCTACCACG CCATTCCGAG TATGAGCCAT GTACATCTTC ATGTGATCAG CCAGGATTTT GATTCTCCTT GCCTTAAAAA CAAAAAACAT TGGAATTCTT TCAATACAGA ATACTTCCTA GAATCACAAG CTGTGATCGA GATGGTACAA GAGGCTGGTA GAGTAACTGT CCGAGATGGG ATGCCTGAGC TCTTGAAGCT GCCCCTTCGT TGTCATGAGT GCCAGCAGCT GCTGCCTTCC ATTCCTCAGC TGAAAGAACA TCTCAGGAAG CACTGGACAC AGTGA
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of APTX cdna clone 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.
NCBI/Uniprot data below describe general gene information for APTX. It may not necessarily be applicable to this product.
NCBI Accession #
BC032650
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UniProt Secondary Accession #
Q0P662; Q5T781; Q5T782; Q5T784; Q6JV81; Q6JV82; Q6JV85; Q7Z2F3; A8MTN4; D3DRK9; D3DRL0[Other Products]
UniProt Related Accession #
Q7Z2E3[Other Products]
Molecular Weight
21,389 Da
NCBI Official Full Name
Homo sapiens aprataxin, mRNA
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]
UniProt Entry Name
APTX_HUMAN
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
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: EC 3.-.-.-; RNA-binding; DNA repair, damage; C2H2-type zinc finger protein; Phosphatase (non-protein); Nucleolus
Chromosomal Location of Human Ortholog: 9p13.3
Cellular Component: chromatin; nuclear chromatin; nucleolus; nucleoplasm; nucleus
Molecular Function: chromatin binding; damaged DNA binding; DNA 5'-adenosine monophosphate hydrolase activity; double-stranded DNA binding; double-stranded RNA binding; phosphoglycolate phosphatase activity; phosphoprotein binding; protein binding; protein N-terminus binding
Biological Process: regulation of protein stability; response to DNA damage stimulus; response to hydrogen peroxide; single strand break repair
Disease: Ataxia, Early-onset, With Oculomotor Apraxia And Hypoalbuminemia
Research Articles on APTX
1. Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Precautions
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Disclaimer
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