MT-ND5

MT-ND5 is a gene that in humans encodes the NADH-ubiquinone oxidoreductase chain 5, a subunit of the respiratory chain complex I. This complex, also known as NADH:ubiquinone oxidoreductase, is located in the mitochondrion inner membrane and is the largest of the five complexes of the electron transport chain.

Function

The MT-ND5 gene is located within mitochondrial DNA, which is distinct from nuclear DNA. As a part of the respiratory chain, MT-ND5 participates in oxidative phosphorylation, a process that generates adenosine triphosphate (ATP), the cell's main source of energy.

Clinical significance

Mutations in the MT-ND5 gene have been associated with a variety of mitochondrial disorders, including Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), and Leigh syndrome. These conditions often involve the nervous system and can present with a wide range of symptoms.

See also

• Mitochondrial Diseases
• Mitochondrial Genetics
• Human mitochondrial genetics

References

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