UQCRC2

Description

UQCRC2, also known as the ubiquinol-cytochrome c reductase core protein 2, is a crucial gene involved in the electron transport chain (ETC) within mitochondria. It encodes a protein that forms part of Complex III, one of the four protein complexes in the ETC. This complex plays a vital role in cellular respiration, the process that generates energy for cells. UQCRC2 facilitates the transfer of electrons from ubiquinol to cytochrome c, contributing to the production of ATP, the cell‘s primary energy currency. Mutations in the UQCRC2 gene can disrupt this process, leading to various health issues.

Associated Diseases

• Leigh syndrome
• Mitochondrial complex III deficiency
• Cardiomyopathy
• Hepatic encephalopathy
• Neurological disorders

Did you know?

Mutations in UQCRC2 can be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.