TIMM8A

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolTIMM8A
Nametranslocase of inner mitochondrial membrane 8A
Typeprotein-coding
Sourcemygene

Summary

This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along wi

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