Gene Symbol: Timm8a1
Description: translocase of inner mitochondrial membrane 8A1
Alias: DDP, Ddp1, Timm8a, mitochondrial import inner membrane translocase subunit Tim8 A, deafness dystonia protein 1 homolog, translocase of inner mitochondrial membrane 8 homolog A1, translocase of inner mitochondrial membrane 8 homolog a
Bauer M, Rothbauer U, Mühlenbein N, Smith R, Gerbitz K, Neupert W, et al
. The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom. FEBS Lett. 1999;464:41-7 pubmed
..retardation and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene...
Ujike H, Tanabe Y, Takehisa Y, Hayabara T, Kuroda S. A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene. Arch Neurol. 2001;58:1004-7 pubmed
..Whereas microdeletions in the deafness-dystonia peptide (DDP) gene were found in 2 white DDS families, our patients showed a novel mutation (arg80ter) in exon 2 of the DDP gene...
Swerdlow R, Wooten G. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. Ann Neurol. 2001;50:537-40 pubmed
..male deafness and dystonia (Mohr-Tranebjaerg syndrome) arises from mutation of the deafness/dystonia peptide (DDP) gene...
Ezquerra M, Campdelacreu J, Muñoz E, Tolosa E, Marti M. A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. Arch Neurol. 2005;62:306-8 pubmed
..So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions...
Blackstone C, Roberts R, Seeburg D, Sheng M. Interaction of the deafness-dystonia protein DDP/TIMM8a with the signal transduction adaptor molecule STAM1. Biochem Biophys Res Commun. 2003;305:345-52 pubmed
The Mohr-Tranebjaerg-Jensen deafness-dystonia-optic atrophy protein DDP/TIMM8a is translated on cytoplasmic ribosomes but targeted ultimately to the mitochondrial intermembrane space, where it is involved in mitochondrial protein import...
Mühlenbein N, Hofmann S, Rothbauer U, Bauer M. Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria. J Biol Chem. 2004;279:13540-6 pubmed
..We conclude that different mechanisms and specific requirements for import and insertion of mammalian carrier preproteins have evolved in higher eukaryotes. ..
Bahmad F, Merchant S, Nadol J, Tranebjaerg L. Otopathology in Mohr-Tranebjaerg syndrome. Laryngoscope. 2007;117:1202-8 pubmed
..MTS is caused by mutations in the DDP/TIMM8A gene, which encodes for a 97 amino acid polypeptide; this polypeptide is a translocase of the inner mitochondrial ..
HÃ¶hr A, Straub S, Warscheid B, Becker T, Wiedemann N. Assembly of Î²-barrel proteins in the mitochondrial outer membrane. Biochim Biophys Acta. 2015;1853:74-88 pubmed publisher