NDUFB1

NDUFB1 is a protein that in humans is encoded by the NDUFB1 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

The NDUFB1 protein is a subunit of the respiratory chain Complex I (RCI), also known as NADH:ubiquinone oxidoreductase. Complex I is the first enzyme of the mitochondrial respiratory chain, which serves as the site of oxidative phosphorylation. The NDUFB1 subunit is one of about 31 proteins that make up the Complex I assembly. It is located in the hydrophobic protein fraction and has a molecular weight of about 8 kDa.

Clinical significance

Mutations in the NDUFB1 gene have been associated with mitochondrial complex I deficiency, a disorder that can cause a wide variety of clinical manifestations, including neonatal lactic acidosis, Leigh syndrome, and Leber's hereditary optic neuropathy. The severity of the clinical symptoms is variable, and they can appear at any age.

See also

• Mitochondrial diseases
• Electron transport chain
• NADH dehydrogenase

References

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