≡

SCO Cytochrome Oxidase Deficient Homolog 2 (SCO2)

[Edit]

SCO1L

SCO Cytochrome Oxidase Deficient Homolog 2 (SCO2)
CCC M192
HGNC 10604
PubMed 20159436
UniProt O43819
Wiki SCO2
The deduced human SCO2 protein of 266 amino acids predicts an N-terminal mitochondrial targeting presequence of 41 amino acids. Human and yeast SCO polypeptides share the greatest identity in a core region, which lies between glycine-102 and glycine-242 in human SCO2. In this region the amino acid identity between the 2 human proteins (54%) is less than that between the 2 yeast proteins (73%).
Moreover, human SCO2 and SCO1 show similar divergence from both yeast proteins suggesting that the 2 human genes are not orthologous to the 2 yeast genes, but rather are paralogous genes. Northern blot analysis detected SCO2 expression as a 0.9-kb transcript in all 12 human tissues examined, with strongest signals in heart, skeletal muscle, brain, liver, and kidney.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPM192Hu01 Recombinant SCO Cytochrome Oxidase Deficient Homolog 2 (SCO2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAM192Hu01 Polyclonal Antibody to SCO Cytochrome Oxidase Deficient Homolog 2 (SCO2) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for SCO Cytochrome Oxidase Deficient Homolog 2 (SCO2) CLIA Kit Customized Service Offer
n/a ELISA Kit for SCO Cytochrome Oxidase Deficient Homolog 2 (SCO2) ELISA Kit Customized Service Offer
  1. "Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene." Nat. Genet. 23:333-337(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Reevaluating human gene annotation: a second-generation analysis of chromosome 22."Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
  3. "A genome annotation-driven approach to cloning the human ORFeome."Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  6. "A structural characterization of human SCO2."Structure 15:1132-1140(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency."Hum. Mol. Genet. 9:795-801(2000) [PubMed] [Europe PMC] [Abstract]
  8. "Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy."Neurology 57:1440-1446(2001) [PubMed] [Europe PMC] [Abstract]
  9. "Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype."Am. J. Med. Genet. A 125A:310-314(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in SCO2 are associated with autosomal-dominant high-grade myopia."Am. J. Hum. Genet. 92:820-826(2013) [PubMed] [Europe PMC] [Abstract]