NDUFAF4 Human

NADH Dehydrogenase 1 Alpha Subcomplex, Assembly Factor 4 (NDUFAF4) is a crucial protein involved in the assembly and function of the mitochondrial respiratory chain complex I. This complex, also known as NADH:ubiquinone oxidoreductase, plays a vital role in cellular respiration by catalyzing the transfer of electrons from NADH to ubiquinone (coenzyme Q) and translocating protons across the inner mitochondrial membrane .

NDUFAF4 is an accessory subunit that ensures the proper assembly of complex I. It is involved in the functional assembly of the mitochondrial respiratory chain complex I, which has NADH dehydrogenase activity with ubiquinone as an immediate electron acceptor . The protein mediates the transfer of electrons from NADH to the respiratory chain, which is essential for ATP production through oxidative phosphorylation .

The NDUFAF4 gene is located on the X chromosome in humans. It encodes a protein that is part of the mitochondrial inner membrane and is essential for the correct assembly and function of complex I . Mutations in this gene can lead to mitochondrial complex I deficiency, which is associated with various neuromuscular and metabolic disorders .

Defects in the NDUFAF4 gene or its protein product can result in severe pathological conditions. These include inherited neuromuscular disorders, metabolic syndromes, and other diseases related to mitochondrial dysfunction . Understanding the role of NDUFAF4 in complex I assembly is crucial for developing therapeutic strategies for these conditions.

Recombinant forms of NDUFAF4 are used in research to study the assembly and function of mitochondrial complex I. These studies help in elucidating the mechanisms of mitochondrial diseases and in developing potential treatments. The human recombinant form of NDUFAF4 is particularly valuable for in vitro studies and therapeutic research .