COA6
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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Cytochrome c oxidase assembly factor 6 is a protein that in humans is encoded by the COA6 gene.[3] Mitochondrial respiratory chain Complex IV, or cytochrome c oxidase, is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis.[4][5] The COA6 gene encodes an assembly factor for mitochondrial complex IV and is a member of the cytochrome c oxidase subunit 6B family.[3][6] This protein is located in the intermembrane space, associating with SCO2 and COX2. It stabilizes newly formed COX2 and is part of the mitochondrial copper relay system.[7] Mutations in this gene result in fatal infantile cardioencephalomyopathy.[6]
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Aliases | COA6, C1orf31, CEMCOX4, cytochrome c oxidase assembly factor 6, MC4DN13 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 614772 GeneCards: COA6 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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