ATP5F1B

Function

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. Subunits alpha and beta form the catalytic core in F(1). 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.

Involvement in disease

Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2

HUMOP2

A disorder apparent in infancy and characterized by euthyroid hypermetabolism, failure to thrive despite excessive caloric intake, intermittent hyperthermia, and developmental delay.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the ATPase alpha/beta chains family.

Cellular localization

• Mitochondrion inner membrane
• Peripheral membrane protein
• Matrix side

Alternative names

ATP5B, ATPMB, ATPSB, ATP5F1B, ATP synthase F1 subunit beta

Database links

swissprot:P06576 genbank:BC016512 omim:102910 entrezGene:506