NADH Dehydrogenase 4L (ND4L)

The MT-ND4L gene provides instructions for making a protein called NADH dehydrogenase 4L. This protein is part of a large enzyme complex known as complex I, which is active in mitochondria. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. These cellular structures produce energy through a process called oxidative phosphorylation, which uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. A mutation in the MT-ND4L gene has been identified in several families with Leber hereditary optic neuropathy. This mutation, which can be written as T10663C or Val65Ala, changes a single protein building block (amino acid) in the NADH dehydrogenase 4L protein.