NDUFV2

Description

The NDUFV2 gene provides instructions for making a protein that is an essential part of complex I, a critical component of the electron transport chain (ETC). This chain plays a vital role in cellular respiration, the process by which cells convert food into energy. Complex I acts as a proton pump, using the energy from electrons to move protons across the mitochondrial membrane, establishing a gradient that is later used to produce ATP, the cell‘s energy currency. Mutations in NDUFV2 can disrupt this process, leading to a decrease in energy production and various health problems.

Associated Diseases

• Leigh syndrome
• Mitochondrial complex I deficiency
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Myoclonic epilepsy with ragged red fibers (MERRF)
• Kearns-Sayre syndrome

Did you know?

NDUFV2 is one of the many genes involved in mitochondrial function, highlighting the importance of mitochondria in human health.