NDUFS2

NDUFS2 is a gene that encodes a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) in humans. Complex I is the first enzyme complex in the electron transport chain of mitochondria, which is responsible for the production of ATP through oxidative phosphorylation.

Function

The NDUFS2 gene provides instructions for making a protein that is essential for normal function of Complex I. This protein is one of about 45 proteins that make up Complex I, which is located in the inner mitochondrial membrane and helps convert energy from food into a form cells can use.

Clinical significance

Mutations in the NDUFS2 gene have been associated with Mitochondrial complex I deficiency, a highly heterogeneous disorder, characterized by a wide range of manifestations, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson's disease.

Research

Research into the NDUFS2 gene and its associated protein continues to be a significant focus in understanding mitochondrial diseases and potential therapeutic interventions.

See also

• Mitochondrial disease
• Leigh syndrome
• Leber's hereditary optic neuropathy
• Parkinson's disease