Description

  • Product name

    Recombinant Human POLG protein
  • Purity

    >= 81 % SDS-PAGE.

  • Expression system

    Baculovirus infected Sf9 cells
  • Accession

  • Protein length

    Full length protein
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      MHHHHHHDYKDDDDKSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPS DGQRR RQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLSRGLH EQIFGQGGEMP GEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYG DNLDQHFRLLAQKQSLPYL EAANLLLQAQLPPKPPAWAWAEGWTRYGP EGEAVPVAIPEERALVFDVEVCLAEGT CPTLAVAISPSAWYSWCSQRL VEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQ LVVGHNVSFDRA HIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKHK VQP PTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPR ELFV KGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPHPV TLAGMLEMGVSY LPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDA CQLLSGERYKEDPWLWDLE WDLQEFKQKKAKKVKKEPATASKLPIEGA GAPGDPMDQEDLGPCSEEEEFQQDVM ARACLQKLKGTTELLPKRPQHL PGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTP KLMALTWDGFPLHY SERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYR KHCLE QGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAV P GQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSC NVGSPFAKD FLPKMEDGTLQAGPGGASGPRALEINKMISFWRNAHKRI SSQMVVWLPRSALPRAVI RHPDYDEEGLYGAILPQVVTAGTITRRAVE PTWLTASNARPDRVGSELKAMVQAPPG YTLVGADVDSQELWIAAVLGD AHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTV GISREHAKIFNYG RIYGAGQPFAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWY RLSDE GEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWK GGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVN WVVQSSAVDY LHLMLVAMKWLFEEFAIDGRFCISIHDEVRYLVREEDR YRAALALQITNLLTRCMFAYK LGLNDLPQSVAFFSAVDIDRCLRKEVT MDCKTPSNPTGMERRYGIPQGEALDIYQIIEL TKGSLEKRSQPGP
    • Predicted molecular weight

      141 kDa including tags
    • Amino acids

      2 to 1239
    • Tags

      His tag N-Terminus , DDDDK tag N-Terminus
    • Additional sequence information

      (NM_002693)

Specifications

Our Abpromise guarantee covers the use of ab196066 in the following tested applications.

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

  • Applications

    SDS-PAGE

  • Form

    Liquid
  • Additional notes

     This product was previously labelled as DNA Polymerase gamma

     

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on Dry Ice. Store at -80°C. Avoid freeze / thaw cycle.

    pH: 8.00
    Constituents: 0.63% Tris HCl, 0.64% Sodium chloride, 0.02% Potassium chloride, 0.04% Tween, 20% Glycerol

    also contains 80 µg/ml DDDDK peptide

General Info

  • Alternative names

    • DNA directed DNA polymerase gamma
    • DNA polymerase subunit gamma 1
    • DNA polymerase subunit gamma-1
    • DPOG1_HUMAN
    • MDP 1
    • MDP1
    • Mitochondrial DNA polymerase catalytic subunit
    • Mitochondrial DNA polymerase gamma
    • PEO
    • POLG
    • POLG 1
    • POLG A
    • PolG alpha
    • PolG-alpha
    • POLG1
    • POLGA
    • Polymerase (DNA directed) gamma
    • SANDO
    • SCAE
    see all
  • Function

    Involved in the replication of mitochondrial DNA.
  • Involvement in disease

    Defects in POLG are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]. Progressive external ophthalmoplegia is characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
    Defects in POLG are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]. PEOB is a severe form of progressive external ophthalmoplegia. It is clinically more heterogeneous than the autosomal dominant forms. Can be more severe.
    Defects in POLG are a cause of sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]. SANDO is a clinically heterogeneous systemic disorder with variable features resulting from mitochondrial dysfunction. It shares phenotypic characteristics with autosomal recessive progressive external ophthalmoplegia and mitochondrial neurogastrointestinal encephalopathy syndrome. The clinical triad of symptoms consists of sensory ataxic, neuropathy, dysarthria, and ophthalmoparesis.
    Defects in POLG are a cause of Alpers-Huttenlocher syndrome (AHS) [MIM:203700]; also called Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis. AHS is an autosomal recessive hepatocerebral syndrome. The typical course of AHS includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks of AHS are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis.
    Defects in POLG are a cause of mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) [MIM:603041]; also known as myoneurogastrointestinal encephalomyopathy. MNGIE is an autosomal recessive disease associated with multiple deletions of skeletal muscle mitochondrial DNA (MtDNA). It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, thin body habitus, peripheral neuropathy, and myopathy.
    Defects in POLG are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.
  • Sequence similarities

    Belongs to the DNA polymerase type-A family.
  • Cellular localization

    Mitochondrion.
  • Information by UniProt

Images

  • SDS-PAGE analysis of 1.3 μg ab196066 using 4-20 % SDS-PAGE gel and stained with Coomassie.

References

ab196066 has not yet been referenced specifically in any publications.

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