UQCRFS1

Description

The UQCRFS1 gene provides instructions for making a protein called Rieske iron-sulfur protein (RISP). This protein is an essential component of the cytochrome bc1 complex, which is part of the electron transport chain (ETC). The ETC is a series of protein complexes embedded within the mitochondrial membrane. It plays a crucial role in cellular respiration, the process by which cells convert food into energy. By transferring electrons, the ETC generates a proton gradient across the mitochondrial membrane, which is then used to produce ATP, the cell‘s primary energy source. Mutations in the UQCRFS1 gene can disrupt the function of the cytochrome bc1 complex, leading to a decrease in ATP production and impaired mitochondrial function.

Associated Diseases

• Leigh Syndrome (LS)
• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
• Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
• Cardiomyopathy
• Diabetes
• Hearing Loss
• Cerebellar Ataxia
• Neuropathy

Did you know?

Mutations in the UQCRFS1 gene are often associated with a specific type of mitochondrial DNA (mtDNA) mutation, known as the 3243A>G mutation. This mutation is one of the most common mtDNA mutations linked to mitochondrial diseases.