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.[provided by RefSeq, Mar 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| TIMM8A-20-RE | 20 (40 μL) | 200 μL |  |
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| TIMM8A-20-OR | 20 (40 μL) | 200 μL |  |
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| TIMM8A-20-GO | 20 (40 μL) | 200 μL |  |
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| TIMM8A-20-GR | 20 (40 μL) | 200 μL |  |
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| TIMM8A-20-AQ | 20 (40 μL) | 200 μL |  |
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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. 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.[provided by RefSeq, Mar 2009]
Gene Symbol : TIMM8A
Gene Name : Translocase of inner mitochondrial membrane 8A
Chromosome : CHR X: 101,348,968-101,345,655
Locus : Xq22.1
Alt. Genes : CELA3A
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