6nl3

Structural highlights

Disease

[COA6_HUMAN] Fatal infantile cytochrome C oxidase deficiency. The disease is caused by mutations affecting the gene represented in this entry.

Function

[COA6_HUMAN] Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. 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. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV.^{[1] [2] [3]}

References

1. ↑ Ghosh A, Trivedi PP, Timbalia SA, Griffin AT, Rahn JJ, Chan SS, Gohil VM. Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. Hum Mol Genet. 2014 Jul 1;23(13):3596-606. doi: 10.1093/hmg/ddu069. Epub 2014 Feb, 18. PMID:24549041 doi:http://dx.doi.org/10.1093/hmg/ddu069
2. ↑ Pacheu-Grau D, Bareth B, Dudek J, Juris L, Vogtle FN, Wissel M, Leary SC, Dennerlein S, Rehling P, Deckers M. Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. Cell Metab. 2015 Jun 2;21(6):823-33. doi: 10.1016/j.cmet.2015.04.012. Epub 2015, May 7. PMID:25959673 doi:http://dx.doi.org/10.1016/j.cmet.2015.04.012
3. ↑ Stroud DA, Maher MJ, Lindau C, Vogtle FN, Frazier AE, Surgenor E, Mountford H, Singh AP, Bonas M, Oeljeklaus S, Warscheid B, Meisinger C, Thorburn DR, Ryan MT. COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2. Hum Mol Genet. 2015 Oct 1;24(19):5404-15. doi: 10.1093/hmg/ddv265. Epub 2015 Jul , 9. PMID:26160915 doi:http://dx.doi.org/10.1093/hmg/ddv265