NADH dehydrogenase (ubiquinone), alpha 1

NADH dehydrogenase (ubiquinone), alpha 1 is an enzyme that is encoded by the NDUFA1 gene in humans. This enzyme is a part of the mitochondrial respiratory chain, which is responsible for the production of adenosine triphosphate (ATP), the primary energy source for cells.

Function

NADH dehydrogenase (ubiquinone), alpha 1 is a component of the NADH dehydrogenase (ubiquinone) complex, also known as Complex I. This complex is the first enzyme of the mitochondrial respiratory chain. It uses the energy from NADH, a product of the Krebs cycle, to pump protons across the inner mitochondrial membrane. This creates a proton gradient that drives the synthesis of ATP via oxidative phosphorylation.

Structure

The NDUFA1 gene encodes a subunit of Complex I. This subunit is one of about 45 that make up the complex. The NDUFA1 subunit is located in the hydrophilic portion of the complex, which is found on the inner side of the mitochondrial membrane.

Clinical significance

Mutations in the NDUFA1 gene can lead to mitochondrial diseases, such as Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. Symptoms can include progressive loss of mental and movement abilities, and it can be fatal.

See also

• Mitochondrial disease
• Leigh syndrome
• NADH dehydrogenase (ubiquinone) complex
• Mitochondrial respiratory chain