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TIMM8A Full-Length MS Protein Standard

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Product Description


NameTIMM8A Full-Length MS Protein Standard
Cat#CPFL304771
Protein Nametranslocase of inner mitochondrial membrane 8 homolog A
SymbolTIMM8A
SynonymsDDP; DDP1; DFN1; MTS; TIM8
AccessionNM_004085
CytogeneticXq22.1
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionTIMM8A Full-Length MS Protein Standard (NP_004076), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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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