NDUFA9

NDUFA9 is a protein that in humans is encoded by the NDUFA9 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

NDUFA9 is an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for the assembly of the respiratory chain Complex I and its association with the mitochondrial membrane.

Clinical significance

Mutations in the NDUFA9 gene are associated with mitochondrial complex I deficiency, a disorder characterized by a variety of clinical manifestations, including cardiomyopathy, encephalopathy, and Leigh syndrome.

Structure

The NDUFA9 protein is a subunit of Complex I and has a molecular weight of 39 kDa. The structure of the protein is largely alpha-helical, with the helices arranged in a compact, globular structure.

Interactions

NDUFA9 has been shown to interact with NDUFAF2.

See also

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

External links

• NDUFA9 at the US National Library of Medicine Medical Subject Headings (MeSH)