View source for 6qh4


==Crystal structure of human Methylmalonyl-CoA epimerase (MCEE) p.Arg143Cys variant==
<StructureSection load='6qh4' size='340' side='right'caption='[[6qh4]], [[Resolution|resolution]] 1.92&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[6qh4]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6QH4 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6QH4 FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CO:COBALT+(II)+ION'>CO</scene></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MCEE ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Methylmalonyl-CoA_epimerase Methylmalonyl-CoA epimerase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=5.1.99.1 5.1.99.1] </span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6qh4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6qh4 OCA], [http://pdbe.org/6qh4 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6qh4 RCSB], [http://www.ebi.ac.uk/pdbsum/6qh4 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6qh4 ProSAT]</span></td></tr>
</table>
== Disease ==
[[http://www.uniprot.org/uniprot/MCEE_HUMAN MCEE_HUMAN]] Vitamin B12-unresponsive methylmalonic acidemia. Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:[http://omim.org/entry/251120 251120]]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:16752391</ref>  
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Human]]
[[Category: Large Structures]]
[[Category: Methylmalonyl-CoA epimerase]]
[[Category: Bailey, H J]]
[[Category: Bountra, C]]
[[Category: Chaikuid, A]]
[[Category: Diaz-Saez, L]]
[[Category: Edwards, A M]]
[[Category: Froese, D S]]
[[Category: Kennedy, E]]
[[Category: Krysztofinska, E]]
[[Category: Sorrell, F J]]
[[Category: Yue, W W]]
[[Category: Isomerase]]
[[Category: Methylmalonyl-coa epimerase]]
[[Category: Mitochondrial]]