Overview

  • Product name

    Recombinant Human Twinkle protein
  • Protein length

    Full length protein

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Species

      Human
    • Sequence

      MFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQG DGVSYEETTIPRPSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGL PTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKLFARKLNPK RCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVL GELSNVEQAAGLRWSRFPDLNRILKGHRKGELTVFTGPTGSGKTTFISEY ALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRF EDLPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLS TDRIAAQDYIIGVFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAK ASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTF SIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPD TSKRSK
    • Amino acids

      1 to 506
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab153425 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Western blot

    ELISA

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • Ataxin 8
    • Ataxin8
    • ATXN 8
    • ATXN8
    • C10 orf2
    • C10orf 2
    • C10orf2
    • Chromosome 10 open reading frame 2
    • IOSCA
    • mitochondrial
    • MTDPS7
    • PEO
    • PEO 1
    • PEO1
    • PEO1_HUMAN
    • PEOA3
    • Progressive external ophthalmoplegia 1 protein
    • SANDO
    • SCA 8
    • SCA8
    • T7 gp4 like protein with intramitochondrial nucleoid localization
    • T7 gp4-like protein with intramitochondrial nucleoid localization
    • T7 helicase-related protein with intramitochondrial nucleoid localization
    • T7 like mitochondrial DNA helicase
    • T7-like mitochondrial DNA helicase
    • Twinkle protein
    • Twinkle protein, mitochondrial
    • TWINL
    see all
  • Function

    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 template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.
  • Tissue specificity

    High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.
  • Involvement in disease

    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3
    Sensory ataxic neuropathy dysarthria and ophthalmoparesis
    Mitochondrial DNA depletion syndrome 7
  • Sequence similarities

    Contains 1 SF4 helicase domain.
  • Cellular localization

    Mitochondrion matrix > mitochondrion nucleoid. Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.
  • Information by UniProt

Images

  • ab153425 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab153425 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab153425.
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