NDUFS1

NDUFS1 is a gene that encodes a protein which is a part of the mitochondrial respiratory chain complex I. This complex, also known as NADH:ubiquinone oxidoreductase, is located in the mitochondria and is responsible for the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the electron transport chain. The encoded protein is the largest subunit of complex I and it is directly involved in the transfer of electrons.

Function

The NDUFS1 gene provides instructions for making a protein that is essential for normal function of mitochondria, the energy-producing centers within cells. This protein is a part of a group of proteins that form the mitochondrial complex I, one of several complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.

Clinical significance

Mutations in the NDUFS1 gene have been associated with mitochondrial complex I deficiency, a highly variable disorder characterized by a wide range of symptoms and severity. The general features include neonatal onset of severe metabolic acidosis, hypotonia, and neurologic abnormalities, including hypertrophic cardiomyopathy, leukodystrophy, and encephalopathy. Some affected individuals have a more mild disease course characterized by hypertonia, ataxia, delayed development, and intellectual disability.

See also

• Mitochondrial disease
• Leigh syndrome
• Mitochondrial complex I deficiency

References

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

External links

• NDUFS1 at the Genetics Home Reference
• NDUFS1 at the National Center for Biotechnology Information