View source for 9dtw


==Co-crystal structure of the ternary complex of human FKBP12, QDPR and Compound 4==
<StructureSection load='9dtw' size='340' side='right'caption='[[9dtw]], [[Resolution|resolution]] 1.39&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9dtw]] is a 2 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=9DTW OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9DTW 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]] 1.39&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=A1BB9:(2~{S})-~{N}-[(2~{R})-1-[[(2~{R})-6-[4-(6,8-dihydro-5~{H}-[1,2,4]triazolo[1,5-a]pyrazin-7-yl)-6-[[(1~{S})-3-methyl-1-(1~{H}-1,2,4-triazol-3-yl)butyl]amino]-1,3,5-triazin-2-yl]-6-azaspiro[2.5]octan-2-yl]methylamino]-4-(4-methoxyphenyl)-1-oxidanylidene-butan-2-yl]-1-(3,3-dimethyl-2-oxidanylidene-pentanoyl)piperidine-2-carboxamide'>A1BB9</scene>, <scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</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=9dtw FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9dtw OCA], [https://pdbe.org/9dtw PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9dtw RCSB], [https://www.ebi.ac.uk/pdbsum/9dtw PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9dtw ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/DHPR_HUMAN DHPR_HUMAN] Defects in QDPR are the cause of BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:[https://omim.org/entry/261630 261630]; also called dihydropteridine reductase deficiency (DHPR deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency or quinoid dihydropteridine reductase deficiency (QDPR deficiency). HPABH4C is a rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. These patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.<ref>PMID:9744478</ref> <ref>PMID:8326489</ref> <ref>PMID:2116088</ref> <ref>PMID:10408783</ref> <ref>PMID:11153907</ref> 
== Function ==
[https://www.uniprot.org/uniprot/DHPR_HUMAN DHPR_HUMAN] The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Romanowski MJ]]
[[Category: Viscomi JS]]