Product Datasheet
TIMM8A Antibody
Catalog Number: 47262
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:O60220
NCBI Gene ID:1678
Gene Accssion:BC006994
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Fusion protein of human TIMM8A
- appl_detail:
- IHC dilution:1: 50-300
- other_names:
- DDP; MTS; DDP1; DFN1; TIM8
- Purification:
- Antigen affinity purification
- Specificity:
- The antibody detects endogenous levels of total TIMM8A protein.
- 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.
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