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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| rdfs:comment |
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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| uniprot:name |
FEBS Lett.
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| uniprot:author |
Bauer M.F.,
Brunner M.,
Gerbitz K.-D.,
Hofmann S.,
Muehlenbein N.,
Neupert W.,
Rothbauer U.,
Smith R.J.H.
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| uniprot:date |
1999
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| uniprot:pages |
41-47
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| uniprot:title |
The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom.
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| uniprot:volume |
464
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| dc-term:identifier |
doi:10.1016/S0014-5793(99)01665-8
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