• Product NameRecombinant Homo sapiens Twinkle protein, mitochondrial
• Brief DescriptionRecombinant Protein
• Host SpeciesYeast
• PurificationGreater than 90% as determined by SDS-PAGE.
• Immunogen DescriptionExpression Region:32-684aa
  Sequence Info:Full Length
• Alternative Names    Progressive external ophthalmoplegia 1 protein;T7 gp4-like protein with intramitochondrial nucleoid localization;T7-like mitochondrial DNA helicase
• Accession No. Q96RR1
• UniprotQ96RR1
• Gene ID56652;
• Calculated MW 75.5 kDa
• Tag Info N-terminal 6xHis-tagged
• Target Sequence APGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRALSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNRAIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPRPSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKLFARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNRILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFEDLPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK
• Formulation Tris-based buffer50% glycerol
• Storage The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20˚C,-80˚C. The shelf life of lyophilized form is 12 months at -20˚C,-80˚C.
  Notes:Repeated freezing and thawing is not recommended. Store working aliquots at 4˚C for up to one week.

Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as tplate to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.

Human mitochondrial DNA deletions associated with mutations in the gene for Twinkle, a phage T7 gene 4-like protein localized in mitochondria.Spelbrink J.N., Li F.-Y., Tiranti V., Nikali K., Yuan Q.-P., Tariq M., Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G.-M., Somer H., Croxen R., Beeson D., Poulton J., Suomalainen A. , Jacobs H.T., Zeviani M., Larsson C.Nat. Genet. 28:223-231(2001)
Research Topic:Epigenetics and Nuclear Signaling

• Flow Cytometry (FCM) General Protocol
• Immunofluorescence(IC)
• Immunohistochemistry(Polymer)
• Western Blotting