7d7r

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'''Unreleased structure'''
 
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The entry 7d7r is ON HOLD
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==Cryo-EM structure of the core domain of human ABCB6 transporter==
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<StructureSection load='7d7r' size='340' side='right'caption='[[7d7r]], [[Resolution|resolution]] 4.00&Aring;' scene=''>
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== Structural highlights ==
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<table><tr><td colspan='2'>[[7d7r]] 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=7D7R OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7D7R FirstGlance]. <br>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 4&#8491;</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7d7r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7d7r OCA], [https://pdbe.org/7d7r PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7d7r RCSB], [https://www.ebi.ac.uk/pdbsum/7d7r PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7d7r ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/ABCB6_HUMAN ABCB6_HUMAN] Ocular coloboma;Dyschromatosis universalis;Colobomatous microphthalmia. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. ABCB6 mutations are involved in familial pseudohyperkalemia, a dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape (PubMed:23180570).<ref>PMID:23180570</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/ABCB6_HUMAN ABCB6_HUMAN] Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.<ref>PMID:10837493</ref> <ref>PMID:17006453</ref>
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Authors:
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==See Also==
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*[[ABC transporter 3D structures|ABC transporter 3D structures]]
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Description:
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== References ==
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[[Category: Unreleased Structures]]
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<references/>
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__TOC__
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</StructureSection>
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[[Category: Homo sapiens]]
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[[Category: Large Structures]]
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[[Category: Cao C]]
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[[Category: Wang C]]
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[[Category: Wang N]]
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[[Category: Wang X]]
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[[Category: Zhang XC]]

Current revision

Cryo-EM structure of the core domain of human ABCB6 transporter

PDB ID 7d7r

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