Disease-gene associations mined from literature

Literature associating ATP5E and frontometaphyseal dysplasia 2

ATP5E [ENSP00000243997]

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit; 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(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity).

Synonyms:  ATP5E,  ATP5Ep,  hATP5E,  ATP5F1E,  P56381 ...

Linkouts:  STRING  Pharos  UniProt  OMIM