This family has 15 members: 1 Arabidopsis thaliana, 1 Caenorhabditis elegans, 2 Danio rerio, 1 Dictyostelium discoideum, 1 Drosophila melanogaster, 1 Gallus gallus, 2 Homo sapiens, 2 Mus musculus, 1 Rattus norvegicus, 2 Saccharomyces cerevisiae, 1 Schizosaccharomyces pombe.
| Protein | Publication | Curator Notes | |
|---|
| UniProtKB:P23833 · SGD:S000000241 |  11118289 Paret C, et al. The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase. Biochem Biophys Res Commun. 2000 Dec 20;279(2):341-7. | The S. cerevisiae/H. sapiens protein SCO1/O75880 complements a homologous mutation in S. cerevisiae. The authors used chimeric proteins with the amino-terminal portion from yeast Sco1p and carboxy-terminal portion from the human hSco1p (O75880). These chimeras are able to complement yeast sco1 null mutants. |
| UniProtKB:P23833 · SGD:S000000241 | 17430883 Khalimonchuk O, et al. Evidence for a pro-oxidant intermediate in the assembly of cytochrome oxidase. J Biol Chem. 2007 Jun 15;282(24):17442-9. | The H. sapiens protein SCO1 complements a homologous mutation in S. cerevisiae. |
| UniProtKB:P23833 · SGD:S000000241 | 11118289 Paret C, et al. The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase. Biochem Biophys Res Commun. 2000 Dec 20;279(2):341-7. | The S. cerevisiae/H. sapiens protein SCO1/ENSP00000255390 complements a homologous mutation in S. cerevisiae. |
| UniProtKB:P23833 · SGD:S000000241 | 11118289 Paret C, et al. The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase. Biochem Biophys Res Commun. 2000 Dec 20;279(2):341-7. | The S. cerevisiae/H. sapiens protein SCO1/ENSP00000255390 complements a homologous mutation in S. cerevisiae. |
| OMIM (3) |
|---|
| ENSEMBL:ENSG00000130489 · UniProtKB:O43819 | #220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY;;CYTOCHROME c OXIDASE DEFICIENCY;;COX DEFICIENCY |
| UniProtKB:P23833 · SGD:S000000241 | #604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY;;CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY |
| #220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY;;CYTOCHROME c OXIDASE DEFICIENCY;;COX DEFICIENCY |
| SGD Disease Papers (8) |
|---|
| UniProtKB:P38072 · SGD:S000000228 | 15659396 Williams JC, et al. (2005) Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein. J Biol Chem 280(15):15202-11 |
| 12134146 Steinmetz LM, et al. (2002) Systematic screen for human disease genes in yeast. Nat Genet 31(4):400-4 |
| 11579424 Shoubridge EA (2001) Cytochrome c oxidase deficiency. Am J Med Genet 106(1):46-52 |
| 11118289 Paret C, et al. (2000) The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase. Biochem Biophys Res Commun 279(2):341-7 |
| 11044474 Robinson BH (2000) Human cytochrome oxidase deficiency. Pediatr Res 48(5):581-5 |
| 10854440 Dickinson EK, et al. (2000) A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway. J Biol Chem 275(35):26780-5 |
| UniProtKB:P38072 · SGD:S000000228 | 11579424 Shoubridge EA (2001) Cytochrome c oxidase deficiency. Am J Med Genet 106(1):46-52 |
| 10749987 Jaksch M, et al. (2000) Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet 9(5):795-801 |
