MT-ND4L

MT-ND4L

Map of the human mitochondrial genome

MT-ND4L is a gene located in the mitochondrial DNA of humans. It encodes a subunit of the NADH dehydrogenase (ubiquinone) complex, which is also known as Complex I of the electron transport chain. This complex plays a crucial role in the process of oxidative phosphorylation, which is essential for the production of adenosine triphosphate (ATP) in eukaryotic cells.

Structure

The MT-ND4L gene is one of the 37 genes found in the mitochondrial genome. It is located on the heavy strand of the mitochondrial DNA and spans approximately 297 base pairs. The gene is transcribed and translated within the mitochondria, and the resulting protein is integrated into the inner mitochondrial membrane as part of Complex I.

Function

MT-ND4L encodes a protein that is a component of the NADH dehydrogenase complex. This complex is the first enzyme of the mitochondrial electron transport chain. It catalyzes the transfer of electrons from NADH to ubiquinone, a process that is coupled with the translocation of protons across the inner mitochondrial membrane. This proton gradient is then used by ATP synthase to generate ATP, the primary energy currency of the cell.

Clinical Significance

Mutations in the MT-ND4L gene can lead to mitochondrial dysfunction, which is associated with a variety of mitochondrial diseases. These diseases often affect tissues with high energy demands, such as the nervous system, muscles, and heart. Symptoms can include muscle weakness, neurological disorders, and cardiomyopathy.

Related pages

• Mitochondrial DNA
• Electron transport chain
• Oxidative phosphorylation
• NADH dehydrogenase
• Mitochondrial diseases