C10orf2

Synonym(s): PEO, PEO1, TWINKLE, FLJ21832, TWINL, IOSCA

Locus: 10q24

Protein: Twinkle protein

Disorder(s):

• Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3
• Infantile-Onset Spinocerebellar Ataxia
• C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
• C10orf2-Related Ataxia Neuropathy Spectrum Disorders