2q71: Difference between revisions

<StructureSection load='2q71' size='340' side='right'caption='[[2q71]], [[Resolution|resolution]] 1.90&Aring;' scene=''>

<table><tr><td colspan='2'>[[2q71]] 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=2Q71 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2Q71 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]] 1.9&#8491;</td></tr>

<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CP3:COPROPORPHYRINOGEN+III'>CP3</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=2q71 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q71 OCA], [https://pdbe.org/2q71 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2q71 RCSB], [https://www.ebi.ac.uk/pdbsum/2q71 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2q71 ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[https://omim.org/entry/176100 176100]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[https://omim.org/entry/176090 176090]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref>  Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[https://omim.org/entry/176100 176100]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref>  

[https://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN] Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.

     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/q7/2q71_consurf.spt"</scriptWhenChecked>

[[Category: Homo sapiens]]

[[Category: Large Structures]]

[[Category: Edwards CQ]]

[[Category: Hill CP]]

[[Category: Kushner JP]]

[[Category: Phillips JD]]

[[Category: Stadtmueller BM]]

[[Category: Whitby FG]]