DISEASES

Disease-gene associations mined from literature

Literature associating ATP5MD and Meier-Gorlin syndrome 1

ATP5MD [ENSP00000358840]

ATP synthase membrane subunit DAPIT, mitochondrial; 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 (Probable). Minor subunit required to maintain the ATP synthase population in the mitochondria .

Synonyms:  ATP5MD,  ATP5MDp,  hATP5MD,  Q96IX5,  Q96IX5p ...

Linkouts:  STRING  Pharos  UniProt