NDUFAB1

Ideogram human chromosome 16

NDUFAB1

NDUFAB1 is a gene that encodes the NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 protein. This protein is a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which is involved in the transfer of electrons from NADH to ubiquinone. Mutations in the NDUFAB1 gene have been associated with mitochondrial complex I deficiency, a condition characterized by a wide range of clinical manifestations including neurological disorders and metabolic abnormalities.

Function

The NDUFAB1 protein is a critical component of Complex I, which is the largest enzyme complex in the mitochondrial electron transport chain. Complex I plays a key role in the generation of ATP, the cell's primary energy source. Specifically, NDUFAB1 is involved in the transfer of electrons from NADH to ubiquinone, a process essential for the production of ATP through oxidative phosphorylation.

Clinical Significance

Mutations in the NDUFAB1 gene have been linked to mitochondrial complex I deficiency, a heterogeneous group of disorders that can affect various tissues and organs. Patients with mutations in NDUFAB1 may present with symptoms such as developmental delay, muscle weakness, and lactic acidosis. The severity of the clinical manifestations can vary widely depending on the specific mutation and its impact on Complex I function.

Research

Research on NDUFAB1 and mitochondrial complex I deficiency is ongoing, with a focus on understanding the molecular mechanisms underlying these disorders. Studies aim to elucidate the role of NDUFAB1 in mitochondrial function and explore potential therapeutic strategies for treating complex I deficiencies.