Twnk - twinkle mtDNA helicase

Predicted to enable several functions, including 5'-3' DNA helicase activity; identical protein binding activity; and protease binding activity. Involved in cellular response to glucose stimulus. Located in mitochondrion. Human ortholog(s) of this gene implicated in Perrault syndrome; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; chronic progressive external ophthalmoplegia; and mitochondrial DNA depletion syndrome 7. Orthologous to human TWNK (twinkle mtDNA helicase). [provided by Alliance of Genome Resources, Apr 2022]