NDUFV1

NDUFV1 is a gene that provides instructions for making a protein that is essential for normal function of mitochondria, which are the energy-producing centers within cells. This protein is a subunit of a group of proteins that form the mitochondrial complex I, one of several complexes that carry out a process called oxidative phosphorylation. This process uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source.

Function

The NDUFV1 protein is one of about 45 proteins that make up mitochondrial complex I. This complex is located in the inner mitochondrial membrane and is the first step in the oxidative phosphorylation pathway. The NDUFV1 protein is thought to be involved in the transfer of electrons from NADH to the next complex in the pathway.

Clinical significance

Mutations in the NDUFV1 gene have been associated with mitochondrial complex I deficiency, a highly variable disorder characterized by a wide range of symptoms and severity. The severity of the condition and the signs and symptoms can vary widely from severe life-threatening problems in infancy to muscle weakness in adulthood. The most common clinical features include neurodegenerative problems, cardiomyopathy, myopathy, liver disease, Leigh syndrome, and encephalopathy.

Genetics

The NDUFV1 gene is located on the short (p) arm of chromosome 11 at position 13. More precisely, the NDUFV1 gene is located from base pair 17,758,207 to base pair 17,764,976 on chromosome 11.

See also

• Mitochondrial disease
• Leigh syndrome
• Mitochondrial complex I deficiency