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Description

NADH-ubiquinone oxidoreductase chain 2 (UniProt: P03891, also known as EC: 1.6.5.3, NADH dehydrogenase subunit 2, MT-ND2) is encoded by the MT-ND2 (also known as MTND2, NADH2, ND2) gene (Gene ID: 4536) in human. MT-ND2 is a mitochondrial inner membrane protein that forms the core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). It is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (Coenzyme Q10) that participates in the generation of a proton gradient, which is then used for ATP synthesis. Defects in MT-ND2 gene are known to cause of Leber hereditary optic neuropathy (LHON) that is a maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.