2rli

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===Solution structure of Cu(I) human Sco2===
===Solution structure of Cu(I) human Sco2===
{{ABSTRACT_PUBMED_17850752}}
{{ABSTRACT_PUBMED_17850752}}
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==Disease==
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[[http://www.uniprot.org/uniprot/SCO2_HUMAN SCO2_HUMAN]] Defects in SCO2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:[http://omim.org/entry/604377 604377]]. This disease is characterized by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. Heart and skeletal muscle show reductions in cytochrome c oxidase (COX) activity, whereas liver and fibroblasts show mild COX deficiencies.<ref>PMID:10545952</ref><ref>PMID:10749987</ref><ref>PMID:11673586</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/SCO2_HUMAN SCO2_HUMAN]] Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:017850752</ref><references group="xtra"/>
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<ref group="xtra">PMID:017850752</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Banci, L.]]
[[Category: Banci, L.]]

Revision as of 18:42, 24 March 2013

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Template:STRUCTURE 2rli

Contents

Solution structure of Cu(I) human Sco2

Template:ABSTRACT PUBMED 17850752

Disease

[SCO2_HUMAN] Defects in SCO2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]. This disease is characterized by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. Heart and skeletal muscle show reductions in cytochrome c oxidase (COX) activity, whereas liver and fibroblasts show mild COX deficiencies.[1][2][3]

Function

[SCO2_HUMAN] Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).

About this Structure

2rli is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  1. ↑ Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet. 1999 Nov;23(3):333-7. PMID:10545952 doi:10.1038/15513
  2. ↑ Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet. 2000 Mar 22;9(5):795-801. PMID:10749987
  3. ↑ Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology. 2001 Oct 23;57(8):1440-6. PMID:11673586

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