DISEASES

Disease-gene associations mined from literature

Literature associating TIMM10 and deafness-dystonia-optic neuronopathy syndrome

TIMM10 [ENSP00000257245]

Translocase of inner mitochondrial membrane 10 homolog (yeast); Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space; Belongs to the small Tim family.

Synonyms:  TIMM10,  TIMM10p,  hTIMM10,  P62072,  P62072p ...

Linkouts:  STRING  Pharos  UniProt  OMIM