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Gene : TIMM8A Homo sapiens

Name  ? translocase of inner mitochondrial membrane 8A Cytological Location  Xq22.1
Brief Description  translocase of inner mitochondrial membrane 8A
Description  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]
  • synonyms:
  • MTS,
  • DDP,
  • OTTHUMG00000022028,
  • TIMM8A,
  • DDP,
  • U66035,
  • DDP1,
  • DFN1,
  • MTS,
  • HGNC:11817,
  • translocase of inner mitochondrial membrane 8 homolog A (yeast),
  • uc004ehd.3,
  • translocase of inner mitochondrial membrane 8 (yeast) homolog A,
  • TIM8,
  • DFN1,
  • NM_004085
  • identifiers:
  • 1678,
  • ENSG00000126953,
  • TIMM8A

Genome feature

Region: gene ? Length: 3082  
Location: X:101345661-101348742 reverse strand Cyto location: Xq22.1


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1 Diseases

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259 SN Ps

5 Cross References

17 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results