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FEBS Lett. 1999 Dec 24;464(1-2):41-7.

The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom.

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Institut für Klinische Chemie, Molekular Diagnostik und Mitochondriale Genetik und Institut für Diabetesforschung, Akad. Krankenhaus München-Schwabing, Kölner Platz 1, D-80804, Munich, Germany.


The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene. DDP1 shows similarity to the yeast proteins Tim9, Tim10 and Tim12, components of the mitochondrial import machinery for carrier proteins. Here, we show that DDP1 belongs to a large family of evolutionarily conserved proteins. We report the identification, chromosomal localization and expressional analysis of six human family members which represent further candidate genes for neurodegenerative diseases.

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