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Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.
Gene Name: | chromosome 10 open reading frame 2 |
Synonyms: | C10orf2, Ataxin 8, IOSCA, Mitochondrial twinkle protein, PEO1, PEO, SANDO, SCA8, Twinkle protein, mitochondrial, MTDPS7, PEOA3, TWINKLE, TWINL |
Target Sequences: | NM_021830 NP_068602.2 Q96RR1 |
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