Disease-gene associations mined from literature

Literature associating TIMM50 and deafness-dystonia-optic neuronopathy syndrome

TIMM50 [ENSP00000445806]

Translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae); Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo. Isoform 2 may participate in the release of snRNPs and SMN from the Cajal body; Belongs to the TIM50 family.

Synonyms:  TIMM50,  LOC102723620,  TIMM50p,  hTIMM50,  A0A024R0M6 ...

Linkouts:  STRING  Pharos  UniProt