NDUFB9 Human

NDUFB9 is part of Complex I, which is located in the inner mitochondrial membrane. Complex I is responsible for the transfer of electrons from NADH to the respiratory chain, with ubiquinone acting as the immediate electron acceptor . Although NDUFB9 is not directly involved in the catalytic activity of Complex I, it is essential for the proper assembly and stability of the complex .

The NDUFB9 gene is located on chromosome 8 and has several pseudogenes on chromosomes 5, 7, and 8 . Alternative splicing of this gene results in multiple transcript variants . The protein encoded by NDUFB9 is ubiquitously expressed and contains an LYR motif, which is a characteristic feature of several proteins involved in mitochondrial function .

Deficiencies in Complex I, including those involving NDUFB9, are the most common defects found in oxidative phosphorylation disorders . These deficiencies can lead to a range of conditions, such as lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders .

Human recombinant NDUFB9 is often used in research to study its role in mitochondrial function and its involvement in various diseases. Recombinant proteins are typically expressed in systems like E. coli and purified for use in various assays . These studies help in understanding the molecular mechanisms underlying mitochondrial disorders and in developing potential therapeutic strategies.