7d7n: Difference between revisions
New page: '''Unreleased structure''' The entry 7d7n is ON HOLD Authors: Description: Category: Unreleased Structures |
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The entry | ==Cryo-EM structure of human ABCB6 transporter== | ||
<StructureSection load='7d7n' size='340' side='right'caption='[[7d7n]], [[Resolution|resolution]] 5.20Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[7d7n]] 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=7D7N OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7D7N FirstGlance]. <br> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 5.2Å</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=7d7n FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7d7n OCA], [https://pdbe.org/7d7n PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7d7n RCSB], [https://www.ebi.ac.uk/pdbsum/7d7n PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7d7n ProSAT]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[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> | |||
== Function == | |||
[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> | |||
==See Also== | |||
*[[ABC transporter 3D structures|ABC transporter 3D structures]] | |||
== References == | |||
[[Category: | <references/> | ||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | |||
[[Category: Cao C]] | |||
[[Category: Wang C]] | |||
[[Category: Wang N]] | |||
[[Category: Wang X]] | |||
[[Category: Zhang XC]] |