NDUFB9

NDUFB9 is a protein that in humans is encoded by the NDUFB9 gene. This gene is located on the chromosome 8 and is a part of the mitochondrial respiratory chain.

Function

NDUFB9 is a subunit of the NADH:ubiquinone oxidoreductase (Complex I), which is the first enzyme of the mitochondrial electron transport chain. Complex I is responsible for the transfer of electrons from NADH to ubiquinone (coenzyme Q10), a process that is coupled with the translocation of protons across the inner mitochondrial membrane. This activity is crucial for the generation of the proton gradient that drives ATP synthesis via oxidative phosphorylation.

Structure

The NDUFB9 protein is a component of the peripheral arm of Complex I. It is one of the accessory subunits that are not directly involved in the catalysis of electron transfer but are essential for the proper assembly and stability of the complex. The protein is composed of 180 amino acids and has a molecular weight of approximately 21 kDa.

Clinical significance

Mutations in the NDUFB9 gene can lead to mitochondrial complex I deficiency, a condition that can cause a wide range of clinical manifestations, including encephalopathy, myopathy, and cardiomyopathy. This deficiency is a type of mitochondrial disease, which can be inherited in an autosomal recessive manner.

Research

Studies on NDUFB9 and its role in Complex I have provided insights into the mechanisms of mitochondrial dysfunction and its contribution to various neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease.

See also

• Mitochondrial DNA
• Electron transport chain
• Oxidative phosphorylation

External links

• NDUFB9 gene - NCBI
• NDUFB9 protein - UniProt