NDUFB11

NDUFB11 is a gene that encodes a protein subunit of the NADH:ubiquinone oxidoreductase (Complex I), which is part of the electron transport chain in mitochondria. This protein is involved in the transfer of electrons from NADH to ubiquinone, a key step in the process of oxidative phosphorylation.

Function

NDUFB11 is a component of the mitochondrial respiratory chain complex I, which is the first enzyme complex in the electron transport chain. It plays a crucial role in cellular respiration by facilitating the transfer of electrons from NADH to ubiquinone, which is also known as coenzyme Q10. This process contributes to the generation of a proton gradient across the inner mitochondrial membrane, ultimately driving the synthesis of ATP through ATP synthase.

Clinical Significance

Mutations in the NDUFB11 gene have been associated with mitochondrial complex I deficiency, which can lead to a variety of mitochondrial disorders. These disorders can affect multiple systems in the body, including the nervous system, muscles, and heart. Symptoms may include muscle weakness, neurological deficits, and cardiomyopathy.

Genetics

The NDUFB11 gene is located on the X chromosome at position Xp11.3. It is one of the many nuclear-encoded genes that contribute to the assembly and function of mitochondrial complex I. Due to its location on the X chromosome, mutations in this gene can exhibit X-linked inheritance patterns.

Research

Research into NDUFB11 and its role in mitochondrial function is ongoing, with studies focusing on understanding the molecular mechanisms underlying complex I deficiencies and developing potential therapeutic strategies. Advances in genetic sequencing and bioinformatics have facilitated the identification of mutations in NDUFB11 and their correlation with clinical phenotypes.

See Also

• Mitochondrial disease
• Electron transport chain
• Oxidative phosphorylation
• ATP synthase

External Links

• NDUFB11 Gene - NCBI
• NDUFB11 Protein - UniProt