NDUFA13

NDUFA13 is a protein that in humans is encoded by the NDUFA13 gene. The protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.

Function

The NDUFA13 protein is a subunit of the respiratory chain Complex I (RCI), which is the first enzyme complex in the electron transport chain of mitochondria. RCI is responsible for transferring electrons from NADH to ubiquinone in a process that is coupled with proton translocation across the mitochondrial inner membrane. This process contributes to the generation of a proton gradient, which drives ATP synthesis via oxidative phosphorylation.

Clinical significance

Mutations in the NDUFA13 gene have been associated with mitochondrial complex I deficiency, a disorder that can cause a wide variety of clinical manifestations, including neurological, cardiac, and liver diseases. The severity of the clinical symptoms can vary widely, from lethal neonatal disease to adult-onset neurodegenerative disorders.

Structure

The NDUFA13 protein is a small subunit of Complex I and has a molecular weight of about 13 kDa. It is located in the hydrophobic protein fraction of Complex I and is believed to be involved in the assembly or stability of the complex.

See also

• Mitochondrial diseases
• Electron transport chain
• Oxidative phosphorylation