View source for 6qje


==Structure of human galactokinase 1 bound with 4-{[2-(Methylsulfonyl)-1H-imidazol-1-yl]methyl}-1,3-thiazole==
<StructureSection load='6qje' size='340' side='right'caption='[[6qje]], [[Resolution|resolution]] 2.40&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[6qje]] is a 4 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=6QJE OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6QJE 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]] 2.4&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GAL:BETA-D-GALACTOSE'>GAL</scene>, <scene name='pdbligand=HFK:2-(1,3-benzoxazol-2-ylamino)spiro[1,6,7,8-tetrahydroquinazoline-4,1-cyclohexane]-5-one'>HFK</scene>, <scene name='pdbligand=J4Q:4-[(2-methylsulfonylimidazol-1-yl)methyl]-1,3-thiazole'>J4Q</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</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=6qje FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6qje OCA], [https://pdbe.org/6qje PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6qje RCSB], [https://www.ebi.ac.uk/pdbsum/6qje PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6qje ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/GALK1_HUMAN GALK1_HUMAN] Defects in GALK1 are the cause of galactosemia II (GALCT2) [MIM:[https://omim.org/entry/230200 230200]. Galactosemia II is an autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.<ref>PMID:10521295</ref> <ref>PMID:10790206</ref> <ref>PMID:11231902</ref> <ref>PMID:11139256</ref> <ref>PMID:12694189</ref> <ref>PMID:15024738</ref> 
== Function ==
[https://www.uniprot.org/uniprot/GALK1_HUMAN GALK1_HUMAN] Major enzyme for galactose metabolism.

==See Also==
*[[Galactokinase|Galactokinase]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Arrowsmith C]]
[[Category: Bezerra GA]]
[[Category: Bountra C]]
[[Category: Brandao-Neto J]]
[[Category: Brennan P]]
[[Category: Douangamath A]]
[[Category: Edwards A]]
[[Category: Foster W]]
[[Category: Krojer T]]
[[Category: Lai K]]
[[Category: Mackinnon SR]]
[[Category: Yue WW]]
[[Category: Zhang M]]