Abstract
TWINKLE (T7gene4 protein like protein with intra-mitochondrial nucleoid localization) is a hexameric helicase involved in the maintenance of the mitochondrial genome in mammalian cells. It is encoded by PEO1 gene of chromosome 10. Mutations in PEO1 have been linked to mitochondrial DNA (mtDNA) deletions, which lead to various neuromuscular disorders. TWINKLE shares about 46% amino acid sequence similarity with T7gene4 protein (gp4), the bifunctional primase-helicase of bacteriophage T7. Even though T7gp4 is one of the best studied helicases, studies on TWINKLE are only in its nascent stage.
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