title: The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom.
abstract: 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.
authors.affiliation: Institut für Klinische Chemie, Molekular Diagnostik und Mitochondriale Genetik und Institut für Diabetesforschung, Akad. Krankenhaus München-Schwabing, Kölner Platz 1, D-80804, Munich, Germany. bauer@bio.med.uni-muenchen.de
authors.forename: M F
authors.initials: MF
authors.lastname: Bauer
authors.forename: U
authors.initials: U
authors.lastname: Rothbauer
authors.forename: N
authors.initials: N
authors.lastname: Mühlenbein
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
authors.forename: K
authors.initials: K
authors.lastname: Gerbitz
authors.forename: W
authors.initials: W
authors.lastname: Neupert
authors.forename: M
authors.initials: M
authors.lastname: Brunner
authors.forename: S
authors.initials: S
authors.lastname: Hofmann
mesh_terms: D000595:Amino Acid Sequence; D015152:Blotting, Northern; D002352:Carrier Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D017124:Conserved Sequence; D018076:DNA, Complementary / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000378:metabolism; D029968:Escherichia coli Proteins; D019143:Evolution, Molecular; D005656:Fungal Proteins / Q000737:chemistry / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D026901:Membrane Transport Proteins; D008928:Mitochondria / Q000201:enzymology*; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D005810:Multigene Family; D010802:Phylogeny; D020161:Physical Chromosome Mapping; D011498:Protein Precursors / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D012441:Saccharomyces cerevisiae / Q000201:enzymology; D029701:Saccharomyces cerevisiae Proteins; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: D002352:Carrier Proteins; C101252:DDP2 protein, E coli; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D029968:Escherichia coli Proteins; D005656:Fungal Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D024101:Mitochondrial Proteins; D011498:Protein Precursors; D029701:Saccharomyces cerevisiae Proteins; C107250:TIM10 protein, S cerevisiae; C403093:TIM13 protein, S cerevisiae; C102549:TIM22 protein, S cerevisiae; C485737:TIMM13 protein, human; C118122:TIMM8A protein, human; C116366:Tim9 protein, S cerevisiae