8dyl
From Proteopedia
(Difference between revisions)
(New page: '''Unreleased structure''' The entry 8dyl is ON HOLD Authors: Mascarenhas, R.N., Gouda, H., Banerjee, R. Description: Crystal structure of human methylmalonyl-CoA mutase bound to aquoc...) |
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- | '''Unreleased structure''' | ||
- | + | ==Crystal structure of human methylmalonyl-CoA mutase bound to aquocobalamin== | |
- | + | <StructureSection load='8dyl' size='340' side='right'caption='[[8dyl]], [[Resolution|resolution]] 1.90Å' scene=''> | |
- | + | == Structural highlights == | |
- | + | <table><tr><td colspan='2'>[[8dyl]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8DYL OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8DYL FirstGlance]. <br> | |
- | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.9Å</td></tr> | |
- | [[Category: | + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=B12:COBALAMIN'>B12</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene></td></tr> |
- | [[Category: | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8dyl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8dyl OCA], [https://pdbe.org/8dyl PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8dyl RCSB], [https://www.ebi.ac.uk/pdbsum/8dyl PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8dyl ProSAT]</span></td></tr> |
- | [[Category: | + | </table> |
- | [[Category: | + | == Disease == |
+ | [https://www.uniprot.org/uniprot/MUTA_HUMAN MUTA_HUMAN] Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM) [MIM:[https://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 == | ||
+ | [https://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. | ||
+ | == References == | ||
+ | <references/> | ||
+ | __TOC__ | ||
+ | </StructureSection> | ||
+ | [[Category: Homo sapiens]] | ||
+ | [[Category: Large Structures]] | ||
+ | [[Category: Banerjee R]] | ||
+ | [[Category: Gouda H]] | ||
+ | [[Category: Mascarenhas RN]] |
Current revision
Crystal structure of human methylmalonyl-CoA mutase bound to aquocobalamin
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