Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex, coupling factor F(o). Used to study several diseases, including Leber hereditary optic neuropathy and dystonia; Leigh disease; NARP syndrome; endocrine gland cancer (multiple); and neuropathy (multiple). Human ortholog(s) of this gene implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. Orthologous to human MT-ATP6 (mitochondrially encoded ATP synthase membrane subunit 6).
SGD Description
Subunit a of the F0 sector of mitochondrial F1F0 ATP synthase; mitochondrially encoded; translation is specifically activated by Atp22p; ATP6 and ATP8 mRNAs are not translated in the absence of the F1 sector of ATPase; mutations in human ortholog MT-ATP6 are associated with neurodegenerative disorders such as Neurogenic Ataxia and Retinitis Pigmentosa (NARP), Leigh syndrome (LS), Charcot-Marie-Tooth (CMT), and ataxia telangiectasia