DISEASES

Disease-gene associations mined from literature

Literature associating UQCC3 and infantile cerebellar-retinal degeneration

UQCC3 [ENSP00000432692]

Ubiquinol-cytochrome c reductase complex assembly factor 3; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin- binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology.

Synonyms:  UQCC3,  UQCC3p,  hUQCC3,  C11ORF83,  Q6UW78 ...

Linkouts:  STRING  Pharos  UniProt