View source for 6hrh


==Structure of human erythroid-specific 5'-aminolevulinate synthase, ALAS2==
<StructureSection load='6hrh' size='340' side='right'caption='[[6hrh]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[6hrh]] 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=6HRH OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6HRH 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]] 2.3&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PLP:PYRIDOXAL-5-PHOSPHATE'>PLP</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=6hrh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6hrh OCA], [https://pdbe.org/6hrh PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6hrh RCSB], [https://www.ebi.ac.uk/pdbsum/6hrh PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6hrh ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/HEM0_HUMAN HEM0_HUMAN] X-linked sideroblastic anemia;Erythropoietic protoporphyria. 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. Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041).<ref>PMID:21309041</ref> 
== Function ==
[https://www.uniprot.org/uniprot/HEM0_HUMAN HEM0_HUMAN] 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Arrowsmith C]]
[[Category: Bailey HJ]]
[[Category: Bountra C]]
[[Category: Burgess-Brown N]]
[[Category: Diaz-saez L]]
[[Category: Edwards A]]
[[Category: Kennedy E]]
[[Category: Kupinska K]]
[[Category: Newman J]]
[[Category: Rembeza E]]
[[Category: Shrestha L]]
[[Category: Yue WW]]
[[Category: Von Delft F]]