The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom
1999; Wiley; Volume: 464; Issue: 1-2 Linguagem: Inglês
10.1016/s0014-5793(99)01665-8
ISSN1873-3468
AutoresMatthias Bauer, Ulrich Rothbauer, Nicole Mühlenbein, Richard J. Smith, Klaus-Dieter Gerbitz, Walter Neupert, Michael Brunner, Sabine Hofmann,
Tópico(s)RNA modifications and cancer
ResumoThe 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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