DISEASES

Disease-gene associations mined from literature

Literature associating UQCC2 and Bjornstad syndrome

UQCC2 [ENSP00000476140]

Ubiquinol-cytochrome c reductase complex assembly factor 2; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability.

Synonyms:  UQCC2,  MIR3934,  UQCC2p,  hUQCC2,  MIR3934p ...

Linkouts:  STRING  Pharos  UniProt