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Recombinant human TIMM8A protein

TIMM8A 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. Recombinant human TIMM8A proten, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.

Product Specifications

Product Name Alternative

Mitochondrial import inner membrane translocase subunit Tim8 A, Mitochondrial import inner membrane translocase subunit Tim8 A, DDP, DDP1, DFN1, MTS, TIM8

Expression System

E.coli

Antigen Species

Human

Tag

His-Tag

Applications

SDS-PAGE

Concentration

0.25 mg/mL (determined by Bradford assay)

Purity

> 90% by SDS-PAGE

Molecular Weight

13.4 kDa (120aa) confirmed by MALDI-TOF

Additionnal Information

TIMM8A, Mitochondrial import inner membrane translocase subunit Tim8 A, Mitochondrial import inner membrane translocase subunit Tim8 A, DDP, DDP1, DFN1, MTS, TIM8, ATGP2486-10 µg, ATGP2486-20 µg, ATGP2486-50 µg, ATGP2486-100 µg, ATGP2486-250 µg, ATGP2486-500 µg, ATGP2486-1 mg, ATGP2486-10, ATGP2486-20, ATGP2486-50, ATGP2486-100, ATGP2486-250, ATGP2486-500, ATGP2486-1

References & Citations

Rothbauer u., et al. (2001) J. Biol. Chem. 276:37327-37334; ; Roesch K., et al. (2004) Hum. Mol. Genet. 13:2101-2111;

Storage Conditions

Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.

Formulation

Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 0.15M NaCl, 30% glycerol, 1mM DTT

Scientific Category

Signal Transduction

NCBI Accession Number

NP_004076

Uniprot Accession Number

O60220

Species

Human

AA Sequence

MGSSHHHHHH SSGLVPRGSH MGSMDSSSSS SAAGLGAVDP QLQHFIEVET QKQRFQQLVH QMTELCWEKC MDKPGPKLDS RAEACFVNCV ERFIDTSQFI LNRLEQTQKS KPVFSESLSD

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