NDUFB3

Description

The NDUFB3 gene provides instructions for making a protein that plays a vital role in the respiratory chain, a series of protein complexes embedded in the inner mitochondrial membrane. This chain is responsible for producing ATP, the primary energy source for cells. The NDUFB3 protein is part of complex I, one of the four complexes in the respiratory chain. It helps to transfer electrons from NADH, a molecule carrying electrons produced during metabolism, to ubiquinone, a molecule that shuttles electrons within the respiratory chain. Mutations in the NDUFB3 gene can disrupt this crucial electron transfer process, leading to a deficiency in energy production and a range of health problems.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Complex I Deficiency
• Mitochondrial Encephalomyopathy
• Hypertrophic Cardiomyopathy

Did you know?

Mutations in the NDUFB3 gene are often associated with Leigh syndrome, a rare but severe neurological disorder characterized by progressive brain damage. This highlights the critical role of NDUFB3 in maintaining brain function.