Cytochrome c oxidase assembly factor 7 (COA7)

Cytochrome c oxidase assembly factor 7 (COA7) is a soluble mitochondrial intermembrane space protein required for the proper assembly and stability of cytochrome c oxidase (complex IV) in the mitochondrial respiratory chain[1][2][3]. The protein contains Sel1-like repeat domains and forms part of the molecular machinery that enables the biogenesis of functional respiratory complex IV, and to some extent is implicated in the assembly of complexes I and III as well[1][2]. Pathogenic variants in the *COA7* gene are causative for complex IV deficiency, clinically manifesting as mitochondrial myopathy, spinocerebellar ataxia with axonal neuropathy, and leukoencephalopathy of variable severity, ranging from isolated myopathy to early-onset developmental regression[1][2][3]. COA7 interacts with the MIA40 import pathway in the mitochondrial intermembrane space, where it is stabilized through disulfide bonds[2]. There are currently no approved drugs directly targeting COA7 or its pathway, but proteasome inhibition has been proposed as a way to rescue COA7 stability and function in cellular models[2].

Other names

C1orf163RESA1SELRC1SCAN3Beta-lactamase hcp-like proteinRespiratory chain assembly factor 1Sel1 repeat-containing protein 1beta-lactamase hcp-like proteinrespiratory chain assembly 1