NDUFA4L2

NDUFA4L2 (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex, 4-like 2) is a protein that in humans is encoded by the NDUFA4L2 gene. It is a member of the NADH dehydrogenase (ubiquinone) complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.

Function

The NDUFA4L2 protein is a component of the respiratory chain complex I, a multi-subunit enzyme complex that functions in the transfer of electrons from NADH to ubiquinone in the electron transport chain, leading to the translocation of protons across the mitochondrial inner membrane. This process is critical for ATP synthesis and overall cellular energy production.

Clinical significance

Alterations in the NDUFA4L2 gene have been associated with various mitochondrial diseases, including Leigh syndrome, a severe neurological disorder that typically arises in the first year of life and is characterized by progressive loss of mental and movement abilities.

Research

Research into NDUFA4L2 has suggested that it may play a role in cancer progression, particularly in hypoxic conditions. Studies have shown that NDUFA4L2 is upregulated in hypoxic conditions and may contribute to the survival of cancer cells under these conditions.

See also

• Mitochondrial disease
• Leigh syndrome
• Electron transport chain
• NADH dehydrogenase (ubiquinone)