UQCRB

Description

The UQCRB gene provides instructions for making a protein called ubiquinol-cytochrome c reductase binding protein. This protein is an essential component of complex III, one of the four protein complexes that make up the electron transport chain (ETC) in mitochondria. The ETC plays a critical role in cellular respiration, the process by which cells convert food into energy. By facilitating the transfer of electrons within complex III, UQCRB contributes to the generation of ATP, the primary energy currency of cells.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
• Mitochondrial complex III deficiency
• Cardiomyopathy

Did you know?

Mutations in the UQCRB gene can lead to a wide range of symptoms, from mild to severe, depending on the specific mutation and the affected tissues.