2hrn: Difference between revisions
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===Solution Structure of Cu(I) P174L-HSco1=== | ===Solution Structure of Cu(I) P174L-HSco1=== | ||
{{ABSTRACT_PUBMED_17182746}} | {{ABSTRACT_PUBMED_17182746}} | ||
==Disease== | |||
[[http://www.uniprot.org/uniprot/SCO1_HUMAN SCO1_HUMAN]] Defects in SCO1 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:[http://omim.org/entry/220110 220110]]; also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome.<ref>PMID:17189203</ref><ref>PMID:11013136</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SCO1_HUMAN SCO1_HUMAN]] Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX.<ref>PMID:17189203</ref><ref>PMID:15659396</ref><ref>PMID:16735468</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017182746</ref><ref group="xtra">PMID:016981709</ref><references group="xtra"/> | <ref group="xtra">PMID:017182746</ref><ref group="xtra">PMID:016981709</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Banci, L.]] | [[Category: Banci, L.]] | ||
