Recombinant Human Twinkle protein (ab153426)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      DRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKK IKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK
    • Amino acids
      591 to 684
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab153426 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

  • ab153426 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab153426 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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