NDUFA4

NDUFA4 is a gene that encodes a subunit of Complex I, a component of the mitochondrial respiratory chain. This gene is located in the nuclear DNA and its product is imported into the mitochondria. The function of this gene is essential for the assembly and function of Complex I, which is responsible for the first step in the electron transport chain, a process that generates adenosine triphosphate (ATP) through oxidative phosphorylation.

Function

The NDUFA4 protein is a subunit of Complex I, the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Complex I plays a crucial role in cellular respiration, a process that converts nutrients into ATP, the main energy currency of the cell. The NDUFA4 subunit is thought to be involved in the assembly or stability of Complex I.

Clinical significance

Mutations in the NDUFA4 gene have been associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities, which can lead to early death. Patients with Leigh syndrome due to NDUFA4 mutations have been reported to present with symptoms including failure to thrive, muscle weakness, and lactic acidosis.

Research

Research into the NDUFA4 gene and its associated protein continues to provide insights into the function of the mitochondrial respiratory chain and the pathogenesis of mitochondrial diseases. Understanding the role of NDUFA4 in these processes may lead to the development of novel therapeutic strategies for conditions associated with mitochondrial dysfunction.

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