MT-ND6

MT-ND6 is a gene that in humans encodes the NADH-ubiquinone oxidoreductase chain 6, a mitochondrial protein involved in the electron transport chain. This gene is located within the mitochondrial DNA and is part of the mitochondrial genome.

Function

The MT-ND6 gene encodes a subunit of the respiratory chain complex I (NADH:ubiquinone oxidoreductase), which is located in the mitochondrial inner membrane. Complex I is the first enzyme of the mitochondrial respiratory chain and it contributes to the transfer of electrons from NADH to ubiquinone.

Clinical significance

Mutations in the MT-ND6 gene have been associated with various mitochondrial disorders, including Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), and Leigh syndrome. These conditions are often characterized by a wide range of symptoms, including visual impairment, neurological problems, and muscle weakness.

See also

• Mitochondrial DNA
• Mitochondrial disease
• Leber's hereditary optic neuropathy
• Leigh syndrome

References

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