DISEASES

Disease-gene associations mined from literature

Literature associating TIMM8B and deafness-dystonia-optic neuronopathy syndrome

TIMM8B [ENSP00000438455]

Translocase of inner mitochondrial membrane 8 homolog B (yeast); Probable 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 (By similarity).

Synonyms:  TIMM8B,  TIMM8Bp,  hTIMM8B,  E9PIR3,  G3XAN8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM