Disease-gene associations mined from literature

Literature associating TIMM22 and deafness-dystonia-optic neuronopathy syndrome

TIMM22 [ENSP00000320236]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM