Article
The pathogenic m.8993 T > G mutation in mitochondrial ATP6 gene prevents proton release from the subunit c-ring rotor of ATP synthase.
Human molecular genetics - 27 Apr 2021
Su Xin, Dautant Alain, Rak Malgorzata, Godard François, Ezkurdia Nahia, Bouhier Marine, Bietenhader Maïlis, Mueller David M, Kucharczyk Roza, di Rago Jean-Paul, Tribouillard-Tanvier Déborah
Abstract excerpt
The human ATP synthase is an assembly of 29 subunits of 18 different types, of which only two (a and 8) are encoded in the mitochondrial genome. Subunit a, together with an oligomeric ring of c-subunit (c-ring), forms the proton pathway responsible for the transport of protons through the mitochondrial inner membrane, coupled to rotation of the c-ring and ATP synthesis. Neuromuscular diseases have been associated...
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