TIMM8A
Chr XXLRtranslocase of inner mitochondrial membrane 8A
Also known as: DDP, DDP1, DFN1, MTS, TIM8
The TIMM8A protein functions as a mitochondrial intermembrane chaperone that imports and inserts multi-pass transmembrane proteins into the mitochondrial inner membrane, protecting hydrophobic precursors from aggregation during transport. Mutations cause Mohr-Tranebjaerg syndrome (also called Deafness Dystonia Syndrome) and Jensen syndrome, both X-linked recessive conditions characterized by opticoacoustic nerve atrophy and additional features including dystonia and muscle weakness. The pathogenic mechanism involves defective mitochondrial protein import leading to mitochondrial dysfunction.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TIMM8A · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools