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FLASH GENE
Symbol DNA2 contributors: mct/pgu - updated : 17-11-2016
HGNC name DNA replication helicase 2 homolog (yeast)
HGNC id 2939
ASSOCIATED DISORDERS
corresponding disease(s) PEOA6 , SCKL8
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in adult-onset disorders of mtDNA maintenance
tumoral somatic mutation      
mutations in DNA2, found in estrogen-dependent cancers, are clustered in the helicase and nuclease domains, suggesting activity impairment
Susceptibility
Variant & Polymorphism
Candidate gene
  • appropriate candidate for molecular screening in subjects with sporadic or familial PEO with ascertained instability of muscle mtDNA
  • Marker
    Therapy target
    ANIMAL & CELL MODELS