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FLASH GENE
Symbol POLG contributors: mct/npt - updated : 10-03-2009
HGNC name polymerase (DNA directed), gamma
HGNC id 9179
ASSOCIATED DISORDERS
corresponding disease(s) PEO1 , AMS1 , PNDC , SANDO , MNGIE2 , OLEN
related resource MITOP database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional somatic mutation      
in substantia nigra of Parkinson disease, with respiratory deficiency
Susceptibility
  • to male infertility
  • to deletion of mitochondrial DNA
  • to testicular germ-cell can
  • Variant & Polymorphism SNP , repeat , other
  • common A467T associated to reduced polymerase activity and loss of accessory subunit interaction are responsible for the depletion and deletion of mitochondrial DNA
  • association of the polymorphism of the CAG repeat with testicular germ-cell cancer (Blomberg 2008)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    mice expressing proofreading-deficient version of the mitochondrial POLG accumulate mtDNA mutations and display features of accelerated aging