Tissue expression
Cell line expression
Protein structure
TIMM8A
Translocase of inner mitochondrial membrane 8ADDP, DFN1, MTS
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]
Top validated antibodies |
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Proteintech Group | 11179-1-AP | 4 references | Polyclonal |
WB
EL
ICC
IP |
|
NSJ Bioreagents | RQ6157 | Polyclonal |
WB
EL
ICC
IHC
FC
|
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LSBio | LS-C133151 | Monoclonal |
WB
EL
IHC
|
||
Invitrogen Antibodies | 11179-1-AP | Polyclonal |
WB
ICC
IP
OA |
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Boster Biological Technology | A07659-1 | Polyclonal |
WB
EL
ICC
IHC |
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