NDUFC2

Description

NDUFC2, also known as NADH dehydrogenase [ubiquinone] 1 alpha subcomplex, 2, is a crucial gene involved in cellular respiration. It encodes a subunit of the NADH dehydrogenase (complex I) in the mitochondrial electron transport chain. This complex plays a vital role in oxidative phosphorylation, the process where cells generate energy in the form of ATP. NDUFC2 helps assemble and stabilize complex I, ensuring efficient electron transfer from NADH to ubiquinone. Mutations in NDUFC2 can disrupt the electron transport chain, leading to mitochondrial dysfunction and a range of associated diseases.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Nonsyndromic deafness
• Myopathy with lactic acidosis
• Neurodegeneration with brain iron accumulation (NBIA)

Did you know?

NDUFC2 is a highly conserved gene, meaning its sequence is very similar across different species. This highlights its fundamental importance in cellular energy production.