Gene Review:
SCO2 - Sco2p
Saccharomyces cerevisiae S288c
Synonyms:
Protein SCO2, mitochondrial, YBR024W, YBR0308
- Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Jaksch, M., Ogilvie, I., Yao, J., Kortenhaus, G., Bresser, H.G., Gerbitz, K.D., Shoubridge, E.A. Hum. Mol. Genet. (2000)
- Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Jaksch, M., Horvath, R., Horn, N., Auer, D.P., Macmillan, C., Peters, J., Gerbitz, K.D., Kraegeloh-Mann, I., Muntau, A., Karcagi, V., Kalmanchey, R., Lochmuller, H., Shoubridge, E.A., Freisinger, P. Neurology (2001)
- Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Jaksch, M., Paret, C., Stucka, R., Horn, N., Müller-Höcker, J., Horvath, R., Trepesch, N., Stecker, G., Freisinger, P., Thirion, C., Müller, J., Lunkwitz, R., Rödel, G., Shoubridge, E.A., Lochmüller, H. Hum. Mol. Genet. (2001)
- Cox17 is functional when tethered to the mitochondrial inner membrane. Maxfield, A.B., Heaton, D.N., Winge, D.R. J. Biol. Chem. (2004)
- A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway. Dickinson, E.K., Adams, D.L., Schon, E.A., Glerum, D.M. J. Biol. Chem. (2000)
- SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae. Glerum, D.M., Shtanko, A., Tzagoloff, A. J. Biol. Chem. (1996)
- Molecular characterization of Saccharomyces cerevisiae Sco2p reveals a high degree of redundancy with Sco1p. Lode, A., Paret, C., Rödel, G. Yeast (2002)