SCO2 Homolog (SCO2) Recombinant Protein

Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.Papadopoulou L.C., Sue C.M., Davidson M.M., Tanji K., Nishino I., Sadlock J.E., Krishna S., Walker W., Selby J., Glerum D.M., Van Coster R., Lyon G., Scalais E., Lebel R., Kaplan P., Shanske S., De Vivo D.C., Bonilla E., Hirano M., DiMauro S., Schon E.A.Nat. Genet. 23:333-337(1999) Reevaluating human gene annotation a second-generation analysis of chromosome 22.Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.Genome Res. 13:27-36(2003) A genome annotation-driven approach to cloning the human ORFeome.Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.Genome Biol. 5:R84.1-R84.11(2004) Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.BMC Syst. Biol. 5:17-17(2011) A structural characterization of human SCO2.Banci L., Bertini I., Ciofi-Baffoni S., Gerothanassis I.P., Leontari I., Martinelli M., Wang S.Structure 15:1132-1140(2007) 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. 9:795-801(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 57:1440-1446(2001) Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.Tarnopolsky M.A., Bourgeois J.M., Fu M.H., Kataeva G., Shah J., Simon D.K., Mahoney D., Johns D., MacKay N., Robinson B.H.Am. J. Med. Genet. A 125A:310-314(2004) Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.Tran-Viet K.N., Powell C., Barathi V.A., Klemm T., Maurer-Stroh S., Limviphuvadh V., Soler V., Ho C., Yanovitch T., Schneider G., Li Y.J., Nading E., Metlapally R., Saw S.M., Goh L., Rozen S., Young T.L.Am. J. Hum. Genet. 92:820-826(2013)

Small volumes of SCO2 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS1247563 is a recombinant protein targeting SCO2. Also known as Recombinant Human Protein SCO2 homolog, mitochondrial. Host: E Coli or Yeast or Baculovirus or Mammalian Cell.