NDUFS2

Description

The NDUFS2 gene provides instructions for making a protein that is a part of complex I, the first protein complex in the electron transport chain (ETC). This chain is essential for cellular respiration, a process that converts nutrients into energy. NDUFS2 protein plays a crucial role in the transfer of electrons within complex I, contributing to the production of ATP, the primary energy source for cells. Defects in NDUFS2 can disrupt this vital process, leading to various health issues.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Complex I Deficiency
• Neurodegenerative Disorders
• Cardiomyopathy
• Hepatopathy

Did you know?

Mutations in the NDUFS2 gene can be inherited in an autosomal recessive manner, meaning that an individual needs to inherit two copies of the mutated gene, one from each parent, to develop the condition.