Translocase Of Inner Mitochondrial Membrane 8A (TIMM8A)

TIMM8A belongs to a family of evolutionary conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane. Loss-of-function mutations in the TIMM8A gene cause Mohr-Tranebjaerg syndrome (MTS), a progressive neurodegenerative disorder.The deduced DDP protein contains 97 amino acids and has a molecular mass of about 11 kD. DDP shows ubiquitous expression,with highest levels in fetal and adult brain.The coding region spans both exons. The first exon of the cDNA sequence begins 770 bp downstream from the polyadenylation signal of BTK.