Recombinant human TIMM8A, His-tagged

• Cat.No.: TIMM8A-2486H
• Product Overview: Recombinant human TIMM8A proten, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Description: 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.
• Form: Liquid. In 20mM Tris-HCl buffer (pH 8.0) containing 0.15M NaCl, 30% glycerol, 1mM DTT
• Molecular Mass: 13.4kDa (120aa) confirmed by MALDI-TOF
• AA Sequence: MGSSHHHHHH SSGLVPRGSH MGSMDSSSSS SAAGLGAVDP QLQHFIEVET QKQRFQQLVH QMTELCWEKC MDKPGPKLDS RAEACFVNCV ERFIDTSQFI LNRLEQTQKS KPVFSESLSD
• Purity: >90 % by SDS - PAGE
• Applications: SDS-PAGE
• Storage: Can be stored at +4C short term (1-2 weeks). For long term storage, aliquot and store at -20C or -70C. Avoid repeated freezing and thawing cycles.
• Concentration: 0.25 mg/ml (determined by Bradford assay)

Gene Information

• Gene Name: TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) [ Homo sapiens ]
• Official Symbol: TIMM8A
• Synonyms: TIMM8A; translocase of inner mitochondrial membrane 8 homolog A (yeast); DFN1, translocase of inner mitochondrial membrane 8 (yeast) homolog A; mitochondrial import inner membrane translocase subunit Tim8 A; DDP; MTS; deafness/dystonia peptide; deafness dystonia protein 1; X-linked deafness dystonia protein; DDP1; DFN1; TIM8; MGC12262
• Gene ID: 1678
• mRNA Refseq: NM_001145951
• Protein Refseq: NP_001139423
• MIM: 300356
• UniProt ID: O60220
• Chromosome Location: Xq22
• Pathway: Metabolism of proteins, organism-specific biosystem; Mitochondrial Protein Import, organism-specific biosystem
• Function: metal ion binding