8dnu
From Proteopedia
(Difference between revisions)
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| - | '''Unreleased structure''' | ||
| - | + | ==Human Brain Glutamine Synthetase== | |
| - | + | <StructureSection load='8dnu' size='340' side='right'caption='[[8dnu]], [[Resolution|resolution]] 2.73Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[8dnu]] is a 10 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=8DNU OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8DNU FirstGlance]. <br> | |
| - | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=MN:MANGANESE+(II)+ION'>MN</scene></td></tr> | |
| - | [[Category: | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8dnu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8dnu OCA], [https://pdbe.org/8dnu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8dnu RCSB], [https://www.ebi.ac.uk/pdbsum/8dnu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8dnu ProSAT]</span></td></tr> |
| - | [[Category: Tringides | + | </table> |
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/GLNA_HUMAN GLNA_HUMAN] Defects in GLUL are the cause of congenital systemic glutamine deficiency (CSGD) [MIM:[https://omim.org/entry/610015 610015]. CSGD is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine is largely absent from affected patients serum, urine and cerebrospinal fluid.<ref>PMID:16267323</ref> | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/GLNA_HUMAN GLNA_HUMAN] This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts.<ref>PMID:18662667</ref> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Tringides ML]] | ||
Revision as of 20:16, 16 November 2022
Human Brain Glutamine Synthetase
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