Disease-gene associations mined from literature

Literature associating C19orf52 and deafness-dystonia-optic neuronopathy syndrome

C19orf52 [ENSP00000270502]

Mitochondrial import inner membrane translocase subunit Tim29; Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin- pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40.

Synonyms:  C19orf52,  C19ORF52,  Q9BSF4,  TIMM29,  c19orf52 ...

Linkouts:  STRING  Pharos  UniProt