NDUFV2

NDUFV2 is a gene that encodes one of the subunits of the mitochondrial complex I, a crucial component of the electron transport chain in mitochondria. The NDUFV2 gene is located on the short (p) arm of chromosome 18 at position 11.2.

Function

The NDUFV2 gene provides instructions for making a protein that is essential for normal mitochondrial function. This protein is a subunit of mitochondrial complex I, which is the first enzyme complex in the electron transport chain. The electron transport chain uses a series of chemical reactions to convert energy from food into a form that cells can use. This process is essential for the normal function of cells and tissues throughout the body.

Clinical significance

Mutations in the NDUFV2 gene have been associated with mitochondrial complex I deficiency, which is the most common biochemical phenotype of mitochondrial diseases. This deficiency can cause a wide variety of signs and symptoms, including leukodystrophy, cardiomyopathy, liver disease, Leigh syndrome, neurodegenerative disorders, and others.

Research

Research is ongoing to better understand the role of the NDUFV2 gene in mitochondrial function and disease. Studies have suggested that mutations in this gene may also be associated with Parkinson's disease, although more research is needed to confirm these findings.

See also

• Mitochondrial disease
• Electron transport chain
• Mitochondrial complex I deficiency

References

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