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Catalog Number: |
47262 |
| other_names: | DDP; MTS; DDP1; DFN1; TIM8 |
Amount: |
100μg |
| calculated_mw: | |
| host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#:O60220 |
Form of Antibody: |
Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol. |
Storage/Stability: |
|
Immunogen: |
Fusion protein of human TIMM8A |
Purification: |
Antigen affinity purification |
Specificity/Sensitivity: |
The antibody detects endogenous levels of total TIMM8A protein. |
Applications: |
IHC |
Background: |
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. |
References: |
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appl_detail: |
IHC dilution:1: 50-300 |
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