TWNK
Chr 10ARADtwinkle mtDNA helicase
Also known as: ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5
The protein is a mitochondrial DNA helicase that unwinds double-stranded DNA during mitochondrial DNA replication in the mitochondrial matrix. Mutations cause mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Perrault syndrome 5, and progressive external ophthalmoplegia with mitochondrial DNA deletions through both autosomal recessive and autosomal dominant inheritance patterns. The pathogenic mechanism involves impaired mitochondrial DNA replication leading to mitochondrial dysfunction and energy deficiency in affected tissues.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TWNK · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
RECRUITINGThe Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools