Citations for
1COX20, MT-CO2, SCO1, SCO2
Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
Bourens M, Boulet A, Leary SC, Barrientos A.
Hum Mol Genet 23(11):2901-13. doi: 10.1093/hmg/ddu003. Epub 2014 Jan 8. 2014
2AHMU, COX20
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.
Hum Mol Genet 22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2. 2013
3COX20
Multiple roles of the Cox20 chaperone in assembly of Saccharomyces cerevisiae cytochrome c oxidase.
Elliott LE, Saracco SA, Fox TD.
Genetics 190(2):559-67. doi: 10.1534/genetics.111.135665. Epub 2011 Nov 17. 2012
4COX20, DEL1Q44, HNRNPU
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C.
Am J Med Genet A 158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7. 2012
5AKT3, C1ORF199, COX20, DEL1Q44, DEL1QD, HNRNPU, ZBTB18
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.
Hum Genet um Genet. 2011 Jul 29. [Epub ahead of print] 2011
6COX20
Substrate recognition by AAA+ ATPases: distinct substrate binding modes in ATP-dependent protease Yme1 of the mitochondrial intermembrane space.
Graef M, Seewald G, Langer T.
Mol Cell Biol 27(7):2476-85. Epub 2007 Jan 29. 2007
7COX20
Biogenesis of cytochrome oxidase-sophisticated assembly lines in the mitochondrial inner membrane.
Herrmann JM, Funes S.
Gene 354:43-52. Review. 2005
8COX20
Identification of Cox20p, a novel protein involved in the maturation and assembly of cytochrome oxidase subunit 2.
Hell K, Tzagoloff A, Neupert W, Stuart RA.
J Biol Chem 275(7):4571-8. 2000