2xiq: Difference between revisions
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{{STRUCTURE_2xiq| PDB=2xiq | SCENE= }} | {{STRUCTURE_2xiq| PDB=2xiq | SCENE= }} | ||
===Crystal structure of human methylmalonyl-CoA mutase in complex with adenosylcobalamin and malonyl-CoA=== | |||
{{ABSTRACT_PUBMED_20876572}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/MUTA_HUMAN MUTA_HUMAN]] Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM) [MIM:[http://omim.org/entry/251000 251000]]. MMAM is an often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy.<ref>PMID:1977311</ref><ref>PMID:1670635</ref><ref>PMID:1351030</ref><ref>PMID:1346616</ref><ref>PMID:7912889</ref><ref>PMID:7909321</ref><ref>PMID:9285782</ref><ref>PMID:9452100</ref><ref>PMID:9554742</ref><ref>PMID:10923046</ref><ref>PMID:11350191</ref><ref>PMID:15643616</ref><ref>PMID:15781192</ref><ref>PMID:16281286</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/MUTA_HUMAN MUTA_HUMAN]] Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:020876572</ref><references group="xtra"/> | <ref group="xtra">PMID:020876572</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Methylmalonyl-CoA mutase]] | [[Category: Methylmalonyl-CoA mutase]] | ||