Literature associating TIMM22 and deafness-dystonia-optic neuronopathy syndrome
Translocase of inner mitochondrial membrane 22 homolog (yeast); Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity); Belongs to the Tim17/Tim22/Tim23 family.
Synonyms: TIMM22, TIMM22p, hTIMM22, Q9Y584, Q9Y584p ...