Gene Symbol: Timm8a1
Description: translocase of inner mitochondrial membrane 8A1
Alias: DXHXS1274E, Ddp1, Fci-12, Tim8a, Timm8a, mitochondrial import inner membrane translocase subunit Tim8 A, deafness dystonia protein 1 homolog, translocase of inner mitochondrial membrane 8 homolog a, translocase of inner mitochondrial membrane 8 homolog a1
Jin H, Kendall E, Freeman T, Roberts R, Vetrie D. The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins. Genomics. 1999;61:259-67 pubmed
..We also describe the expression patterns and chromosomal locations of their genes, which are candidate loci for autosomal recessive neurodegenerative disorders. ..
Roesch K, Curran S, Tranebjaerg L, Koehler C. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet. 2002;11:477-86 pubmed
..results from a mutation in deafness/dystonia protein 1/translocase of mitochondrial inner membrane 8a (DDP1/TIMM8a)...
LU J, Qian J, Izvolsky K, Cardoso W. Global analysis of genes differentially expressed in branching and non-branching regions of the mouse embryonic lung. Dev Biol. 2004;273:418-35 pubmed
..Our data suggest that these genes may regulate focal developmental events specific of each of these regions during respiratory tract formation. ..
Oeltjen J, Malley T, Muzny D, Miller W, Gibbs R, Belmont J. Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997;7:315-29 pubmed
..These data show the usefulness of large scale sequence comparisons to focus investigation on regions of noncoding sequence that play essential roles in complex gene regulation. ..
Roesch K, Hynds P, Varga R, Tranebjaerg L, Koehler C. The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet. 2004;13:2101-11 pubmed
The biogenesis of the mitochondrial inner membrane is dependent on two distinct 70 kDa protein complexes. TIMM8a partners with TIMM13 in the mitochondrial intermembrane space to form a 70 kDa complex and facilitates the import of the ..
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...
Nakane T, Inada Y, Ito F, Itoh N, Tazawa S, Chiba S. Cloning and expression of mouse deafness dystonia peptide 1 cDNA. Biochem Biophys Res Commun. 2000;273:759-64 pubmed
Complementary DNA of mouse deafness dystonia peptide 1 (DDP1) was isolated from adipocyte cDNA library and expressed in mammalian cells...
Engl G, Florian S, Tranebjærg L, Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012;21:287-99 pubmed publisher
..DDON) Syndrome is a rare X-linked progressive neurodegenerative disorder resulting from mutations in the TIMM8A gene encoding for the deafness dystonia protein 1 (DDP1)...