Mitochondrial complex I is a large enzyme complex that forms part of the electron transport chain. The enzyme is composed of many different polypeptides. The genes coding for these polypeptides are located either in mitochondrial DNA (mtDNA) or in nuclear DNA. Mutations in these genes can lead to the production of an enzyme that does not function efficiently. This results in a disease known as mitochondrial complex I deficiency. If severe, this can lead to death in early childhood.
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