SCO2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
SCO2 cytochrome c oxidase assembly protein
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SCO2 ; CEMCOX1; SCO1L
External IDs OMIM604272 HomoloGene68444 GeneCards: SCO2 Gene
RNA expression pattern
PBB GE ECGF1 205241 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9997 100126824
Ensembl ENSG00000130489 ENSMUSG00000091780
UniProt O43819 Q8VCL2
RefSeq (mRNA) NM_001169109 NM_001111288
RefSeq (protein) NP_001162580 NP_001104758
Location (UCSC) Chr 22:
50.96 – 50.96 Mb
Chr 15:
89.37 – 89.37 Mb
PubMed search [1] [2]

SCO2 cytochrome c oxidase assembly (also known as SCO2 homolog, mitochondrial and SCO cytochrome oxidase deficient homolog 2) is a protein that in humans is encoded by the SCO2 gene.[1][2][3]

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog of the yeast SCO2 gene.[3]

Mutations in this gene that alter the regulation of copper and oxygen levels are associated with a severe COX deficiency in striated muscle, an early onset fatal cardiac encephalomyopathy,[4] and a severe form of nearsightedness.

References[edit]

  1. ^ Paret C, Ostermann K, Krause-Buchholz U, Rentzsch A, Rodel G (May 1999). "Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization". FEBS Lett 447 (1): 65–70. doi:10.1016/S0014-5793(99)00266-5. PMID 10218584. 
  2. ^ Horng YC, Leary SC, Cobine PA, Young FB, George GN, Shoubridge EA, Winge DR (Oct 2005). "Human Sco1 and Sco2 function as copper-binding proteins". J Biol Chem 280 (40): 34113–22. doi:10.1074/jbc.M506801200. PMID 16091356. 
  3. ^ a b "Entrez Gene: SCO2 SCO2 cytochrome c oxidase assembly protein [ Homo sapiens (human) ]". 
  4. ^ 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. (2001). "Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts". Human Molecular Genetics 10 (26): 3025–3035. doi:10.1093/hmg/10.26.3025. PMID 11751685.  edit

Further reading[edit]