DISEASES

Disease-gene associations mined from literature

Literature associating MT-ATP8 and Kearns-Sayre syndrome

MT-ATP8 [ENSP00000355265]

Mitochondrially encoded ATP synthase 8; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity).

Synonyms:  MT-ATP8,  ATP8,  ATP8p,  hATP8,  D3WZ02 ...

Linkouts:  STRING  Pharos  UniProt