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This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. Additionally we are shipping Translocase of Inner Mitochondrial Membrane 8 Homolog A (Yeast) Antibodies (41) and Translocase of Inner Mitochondrial Membrane 8 Homolog A (Yeast) Proteins (11) and many more products for this protein.
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The results of this study demonistrated that the syndrome of deafness-dystonia is cause by mutation of Timm8a.
knockdown of the TIMM8A gene by RNA interference did not show an influence on the oxygen respiration rate and the mitochondrial membrane potentia
Interaction of TIMM8a with the signal transduction adaptor molecule STAM1.
Intronic mutations in the DDP1 gene can also cause X-linked dystonia-deafness syndrome.
Bax/Bak-dependent release of DDP/TIMM8a promotes Drp1-mediated mitochondrial fission and mitoptosis during programmed cell death.
Mutation in TIMM8a is associated with deafness-dystonia (Mohr-Tranebjaerg) syndrome
A sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation in the DDP1 gene.
mRNA expression demonstrate increased TIMM8A mRNA levels in cultured fibroblasts from a patient with Mohr-Tranebjaerg Syndrome.
Human deafness dystonia syndrome is caused by a defect in assembly of this protein complex. The defect is caused by a point mutation (a missense mutation).
This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome\; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
translocase of inner mitochondrial membrane 8 homolog A (yeast)
, mitochondrial import inner membrane translocase subunit Tim8 A
, Mitochondrial import inner membrane translocase subunit Tim8 A
, deafness dystonia protein
, X-linked deafness dystonia protein
, deafness dystonia protein 1
, deafness/dystonia peptide
, deafness dystonia protein 1 homolog
, translocase of inner mitochondrial membrane 8 homolog a
, translocase of inner mitochondrial membrane 8 homolog a1