TIMM8A (1-97, His-tag) Human Protein
Specifications
| Product Data | |
| Species | Human |
|---|---|
| Expression Host | E. coli |
| Expression cDNA Clone or AA Sequence | |
| Tag | His-tag |
| Predicted MW | 13.4 kDa |
| Concentration | lot specific |
| Purity | >90% by SDS - PAGE |
| Presentation State | Purified |
| Buffer | Presentation State: Purified State: Liquid purified protein Buffer System: 20 mM Tris-HCl buffer (pH 8.0) containing 0.15M NaCl, 30% glycerol, 1 mM DTT |
| Preparation | Liquid purified protein |
| Protein Description | Recombinant human TIMM8A proten, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques. |
| Storage | Store undiluted at 2-8°C for one week or (in aliquots) at -20°C to -80°C for longer. Avoid repeated freezing and thawing. |
| Stability | Shelf life: one year from despatch. |
| Shipping | Blue Ice |
| Reference Data | |
| RefSeq | NP_001139423 |
| Locus ID | 1678 |
| UniProt ID | A0A2R8YDA8 |
| Cytogenetics | Xq22.1 |
| Synonyms | TIM8A, DDP, DDP1, Deafness dystonia protein 1 |
| Summary | 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 |
| Protein Families | Druggable Genome |
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