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Description
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 70kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms
Specifications
Specifications
| Antigen | TIMM8A |
| Applications | ELISA, Western Blot |
| Classification | Monoclonal |
| Clone | 1A12 |
| Conjugate | Unconjugated |
| Description | Mouse monoclonal antibody raised against a full-length recombinant TIMM8A. |
| Formulation | PBS with no preservative; pH 7.4 |
| Gene | TIMM8A |
| Gene Accession No. | BC005236 |
| Gene Alias | DDP/DDP1/DFN1/MGC12262/MTS |
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