Disease-gene associations mined from literature

Literature associating TIMM13 and deafness-dystonia-optic neuronopathy syndrome

TIMM13 [ENSP00000215570]

Translocase of inner mitochondrial membrane 13 homolog (yeast); Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also 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. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins.

Synonyms:  TIMM13,  TIMM13p,  hTIMM13,  K7EIT2,  Q9Y5L4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM