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Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP, Nijtmans LG, Huynen MA. Szklarczyk R, et al. Among authors: wanschers bf. Genome Biol. 2012 Feb 22;13(2):R12. doi: 10.1186/gb-2012-13-2-r12. Genome Biol. 2012. PMID: 22356826 Free PMC article.
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP. Szklarczyk R, et al. Among authors: wanschers bf. Hum Mol Genet. 2013 Feb 15;22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2. Hum Mol Genet. 2013. PMID: 23125284
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR. Tucker EJ, et al. Among authors: wanschers bf. PLoS Genet. 2013;9(12):e1004034. doi: 10.1371/journal.pgen.1004034. Epub 2013 Dec 26. PLoS Genet. 2013. PMID: 24385928 Free PMC article.
NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.
Szklarczyk R, Wanschers BF, Nabuurs SB, Nouws J, Nijtmans LG, Huynen MA. Szklarczyk R, et al. Among authors: wanschers bf. FEBS Lett. 2011 Mar 9;585(5):737-43. doi: 10.1016/j.febslet.2011.01.046. Epub 2011 Feb 22. FEBS Lett. 2011. PMID: 21310150 Free article.
BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion.
Willems P, Wanschers BF, Esseling J, Szklarczyk R, Kudla U, Duarte I, Forkink M, Nooteboom M, Swarts H, Gloerich J, Nijtmans L, Koopman W, Huynen MA. Willems P, et al. Among authors: wanschers bf. Antioxid Redox Signal. 2013 Jan 10;18(2):129-38. doi: 10.1089/ars.2011.4253. Epub 2012 Sep 11. Antioxid Redox Signal. 2013. PMID: 22746225 Free PMC article.