Disease-gene associations mined from literature

Literature associating MT-ATP6 and cranial nerve disease

MT-ATP6 [ENSP00000354632]

Mitochondrially encoded ATP synthase 6; 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. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.

Synonyms:  MT-ATP6,  ATP6,  ATP6p,  hATP6,  D2Y6Y6 ...

Linkouts:  STRING  Pharos  UniProt