TWNK wt Allele

**Semantic type:** Gene or Genome

**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.

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