靶标：
TIMM8A
产品别名：
DDP； DDP1； DFN1； MTS； TIM8； TIMM8A； translocase of inner mitochondrial membrane 8A； translocase of inner mitochondrial membrane 8A； 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； 线粒体内膜转位酶8A/耳聋/肌张力障碍肽；
背景信息：
Mitochondrial import inner membrane translocase subunit Tim8 A, also known as Deafness-dystonia peptide or protein is an enzyme that in humans is encoded by the TIMM8A gene. 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.
