Synonyms: DDP 1,DDP,DDP1,Deafness dystonia protein 1,Deafness/dystonia peptide,DFN 1,DFN1,MGC12262,Mitochondrial import inner membrane translocase subunit Tim8 A,MTS,TIM 8A,TIM8,TIM8A,TIM8A,TIMM 8A,timm8a,Translocase of inner mitochondrial membrane 8 homolog A,X linked deafness dystonia protein,X-linked deafness dystonia protein
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.