View source for 8dyj


==Crystal structure of human methylmalonyl-CoA mutase in complex with ADP and cob(II)alamin==
<StructureSection load='8dyj' size='340' side='right'caption='[[8dyj]], [[Resolution|resolution]] 2.20&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8dyj]] 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=8DYJ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8DYJ 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]] 2.2&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8dyj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8dyj OCA], [https://pdbe.org/8dyj PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8dyj RCSB], [https://www.ebi.ac.uk/pdbsum/8dyj PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8dyj ProSAT]</span></td></tr>
</table>
== 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]]