" /> TWNK wt Allele - CISMeF





Preferred Label : TWNK wt Allele;

NCIt synonyms : Ataxin 8 Gene; ATXN8; FLJ21832; PEO1; MTDPS7; PEO; Twinkle mtDNA Helicase wt Allele; T7 Helicase-Related Protein with Intramitochondrial Nucleoid Localization Gene; Chromosome 10 Open Reading Frame 2 Gene; Infantile Onset Spinocerebellar Ataxia (Autosomal Recessive) Gene; IOSCA; SANDO; PRLTS5; PEOA3; C10orf2; TWINL; SCA8;

NCIt definition : Human TWNK wild-type allele is located in the vicinity of 10q24.31 and is approximately 7 kb in length. This allele, which encodes twinkle mtDNA helicase protein, is involved in unwinding of mitochondrial DNA to promote replication. Mutations in the gene are associated with hepatocerebral-type mitochondrial DNA depletion syndrome 7, autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 and Perrault syndrome 5.;

GenBank Accession Number : AF292004;

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09/09/2025


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