TIMM8A Antibody

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.

DDP, DDP1, DFN1, MTS, TIM8, mitochondrial import inner membrane translocase subunit Tim8 A, X-linked deafness dystonia protein, deafness dystonia protein 1, deafness/dystonia peptide, translocase of inner mitochondrial membrane 8 homolog A