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Deafness dystonia polypeptide : ウィキペディア英語版
TIMM8A

Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme that in humans is encoded by the ''TIMM8A'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1678 )
This translocase has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Deafness-dystonia syndrome (or Mohr-Tranebjaerg syndrome; MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system.〔
==Alternative names==

*Deafness-dystonia peptide
*Deafness-dystonia protein

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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