Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
TWNK
Twinkle mtDNA helicase




10q23.-q24.1
* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.54, 16.34)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.54, 16.34)