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{{STRUCTURE_4jtt|  PDB=4jtt  |  SCENE=  }}
===Crystal structure of human dihydroorotate dehydrogenase (DHODH) with 066===


==Disease==
==Crystal structure of human dihydroorotate dehydrogenase (DHODH) with 066==
[[http://www.uniprot.org/uniprot/PYRD_HUMAN PYRD_HUMAN]] Defects in DHODH are the cause of postaxial acrofacial dysostosis (POADS) [MIM:[http://omim.org/entry/263750 263750]]; also known as Miller syndrome. POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases.<ref>PMID:19915526</ref>
<StructureSection load='4jtt' size='340' side='right'caption='[[4jtt]], [[Resolution|resolution]] 2.10&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[4jtt]] 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=4JTT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4JTT 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]] 2.1&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ACT:ACETATE+ION'>ACT</scene>, <scene name='pdbligand=FMN:FLAVIN+MONONUCLEOTIDE'>FMN</scene>, <scene name='pdbligand=JTT:2,4-DIMETHYL-N-(NAPHTHALEN-2-YL)-1,3-THIAZOLE-5-CARBOXAMIDE'>JTT</scene>, <scene name='pdbligand=ORO:OROTIC+ACID'>ORO</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</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=4jtt FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4jtt OCA], [https://pdbe.org/4jtt PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4jtt RCSB], [https://www.ebi.ac.uk/pdbsum/4jtt PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4jtt ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/PYRD_HUMAN PYRD_HUMAN] Defects in DHODH are the cause of postaxial acrofacial dysostosis (POADS) [MIM:[https://omim.org/entry/263750 263750]; also known as Miller syndrome. POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases.<ref>PMID:19915526</ref>  
== Function ==
[https://www.uniprot.org/uniprot/PYRD_HUMAN PYRD_HUMAN] Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.


==Function==
==See Also==
[[http://www.uniprot.org/uniprot/PYRD_HUMAN PYRD_HUMAN]] Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
*[[Dihydroorotate dehydrogenase 3D structures|Dihydroorotate dehydrogenase 3D structures]]
 
== References ==
==About this Structure==
<references/>
[[4jtt]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4JTT OCA].
__TOC__
 
</StructureSection>
==Reference==
[[Category: Homo sapiens]]
<references group="xtra"/><references/>
[[Category: Large Structures]]
[[Category: Li, H.]]
[[Category: Li H]]
[[Category: Ren, X.]]
[[Category: Ren X]]
[[Category: Zhu, J.]]
[[Category: Zhu J]]
[[Category: Zhu, L.]]
[[Category: Zhu L]]
[[Category: Fmn binding]]
[[Category: Mitochondria inner membrane]]
[[Category: Oxidoreductase]]

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