NDUFA12

NDUFA12 is a protein that in humans is encoded by the NDUFA12 gene. The protein encoded by this gene is an accessory subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I) that is located in the mitochondrial inner membrane. Complex I is the first enzyme of the mitochondrial electron transport chain.

Function

NDUFA12 is a component of the mitochondrial respiratory chain complex I, a multi-subunit enzyme complex that functions in the transfer of electrons from NADH to the respiratory chain. The encoded protein is an accessory subunit of the complex that is involved in the regulation of electron transfer activity. It is not directly involved in catalysis, but may enhance the stability of the complex or the efficiency of electron transfer.

Clinical significance

Mutations in the NDUFA12 gene are associated with mitochondrial complex I deficiency, a disorder characterized by a variety of clinical manifestations, including cardiomyopathy, encephalopathy, and Leigh syndrome.

See also

• Mitochondrial Diseases
• Leigh Syndrome
• Cardiomyopathy
• Encephalopathy

External links

• NCBI Gene
• UniProt