8dnu: Difference between revisions
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==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]] | |||
