FEBS Lett.

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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http://purl.uniprot.org/cit...rdfs:commentThe 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.lld:uniprot
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http://purl.uniprot.org/cit...uniprot:authorHofmann S.lld:uniprot
http://purl.uniprot.org/cit...uniprot:authorNeupert W.lld:uniprot
http://purl.uniprot.org/cit...uniprot:authorBauer M.F.lld:uniprot
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http://purl.uniprot.org/cit...uniprot:authorGerbitz K.-D.lld:uniprot
http://purl.uniprot.org/cit...uniprot:authorSmith R.J.H.lld:uniprot
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http://purl.uniprot.org/cit...uniprot:titleThe mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom.lld:uniprot
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