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TWNK

—Twinkle mtDNA Helicase

Chromosome: 10

Location: 10:100987367-100994403

OMIM: 606075

Ensembl: ENSG00000107815

Official·OMIM:606075 Official·ENSG00000107815

Encodes mitochondrial DNA helicase. Mutations cause PEO and infantile-onset spinocerebellar ataxia.

Treatment Roadmap — TWNK

Preclinical

Phase 1

Phase 2

1 trial

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Progressive External Ophthalmoplegia

Autosomal DominantPrevalence: 1/100000mitochondrial

Official·OMIM:157640 Official·ORPHA254892

Summary

Clinical Trial

Approved Therapy

Registered Variant