中文名稱:TIMM8A 抗原(重組蛋白)
英文名稱:TIMM8A Antigen (Recombinant Protein)
別 名: translocase of inner mitochondrial membrane 8A; DDP; MTS; DDP1; DFN1; TIM8
儲(chǔ) 存: 冷凍(-20℃)
相關(guān)類別:抗原
概 述
技術(shù)規(guī)格
Full name: |
translocase of inner mitochondrial membrane 8A |
Synonyms: |
DDP; MTS; DDP1; DFN1; TIM8 |
Swissprot: |
O60220 |
Gene Accession: |
BC006994 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
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. |