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Beschreibung

"NADH-ubiquinone oxidoreductase chain 4 (UniProt: P03905, also known as EC: 1.6.5.3, NADH dehydrogenase subunit 4, MT-ND4) is encoded by the MT-ND4 (also known as MTND4, NADH4, ND4) gene (Gene ID: 4538) in human. MT-ND4 is an inner mitochondrial membrane protein that belongs to the complex I subunit 4 family. It is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). The complex couples the oxidation of NADH and the reduction of ubiquinone (Coenzyme Q10), to the generation of a proton gradient, which is then used for ATP synthesis. The complex can be dissociated into two main sub-complexes, corresponding to the ""ankle"" of the boot, and the ""foot"" of the boot. The ankle is thought to protrude from the membrane so as to be predominantly in the aqueous phase on the matrix side. It contains the binding site for NAD(H), and the input electron transfer chain. The foot (hydrophobic) is membrane bound and contains a catalytic site at which ubiquinone is reduced. Defects in MT-ND4 gene are known to cause Leber hereditary optic neuropathy (LHON) that is characterized by acute or subacute loss of central vision due to optic nerve dysfunction. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Other diseases associated with MT-ND4 gene mutations are age-related macular degeneration, mesial temporal lobe epilepsy, and cystic fibrosis."