NDUFA7

NDUFA7 is a protein that in humans is encoded by the NDUFA7 gene. The protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.

Function

NDUFA7 is an accessory subunit of the NADH dehydrogenase (ubiquinone) complex, located in the mitochondrial inner membrane. It is also known as Complex I and is the largest of the five complexes of the electron transport chain. The structure of mammalian Complex I is composed of 44 different subunits, including NDUFA7, and has a molecular weight of about 1 million Daltons. One of the functions of these accessory subunits is the translocation of protons across the inner mitochondrial membrane.

Clinical significance

Mutations in the NDUFA7 gene are associated with mitochondrial complex I deficiency, a disorder that can cause a wide variety of clinical disorders, including Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson's disease. Symptoms can include muscle weakness, exercise intolerance, and lactic acidosis.

See also

• Mitochondrial diseases
• Electron transport chain
• NADH dehydrogenase (ubiquinone)

References

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