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Functional and structural domains of the polymerase gamma protein

The N-terminal domain (NTD) region contains the mitochondrial targeting sequence. The thumb subdomains (T) of the protein are located between the exonuclease and linker region, as well as within the polymerase region. The exonuclease domain contains essential sequence motifs I, II, and III for its activity. The polymerase domain contains subdomains comprising the thumb (T), palm, and finger, which contain motifs A, B, and C. Two regions comprise the palm subdomain within the polymerase domain, and those motifs located within the polymerase domain are critical for polymerase activity. Arrows indicate the numbered positions of amino acids that begin a subdomain. (Contributed by Dr. Bruce H Cohen.)

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Associated Disorders

  • Ataxia
  • Axonal sensorimotor neuropathy
  • Cardiomyopathy
  • Cataract
  • Chorea
  • Cortical blindness
  • Dementia
  • Depression
  • Diabetes
  • Exercise intolerance
  • Focal motor seizures
  • Gastrointestinal dysmotility
  • Generalized seizures
  • Liver failure
  • Migraine
  • Myoclonus
  • Parkinsonism
  • Primary ovarian failure
  • Primary testicular failure
  • Proximal myopathy
  • Psychosis
  • Ptosis and external ophthalmoparesis (PEO or CPEO)
  • Retinopathy
  • Sensorineural deafness
  • Sensory neuropathy/ganglionopathy
  • Stroke-like episodes