Disease-gene associations mined from literature

Literature associating TIMM8A and deafness-dystonia-optic neuronopathy syndrome

TIMM8A [ENSP00000361993]

Translocase of inner mitochondrial membrane 8 homolog A (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. Probably necessary for normal neurologic development.

Synonyms:  TIMM8A,  TIMM8Ap,  hTIMM8A,  O60220,  DDP ...

Linkouts:  STRING  Pharos  UniProt  OMIM