2cw6
From Proteopedia
(Difference between revisions)
| Line 3: | Line 3: | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2cw6]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2CW6 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2CW6 FirstGlance]. <br> | <table><tr><td colspan='2'>[[2cw6]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2CW6 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2CW6 FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=3HG:3-HYDROXYPENTANEDIOIC+ACID'>3HG</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene>< | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=3HG:3-HYDROXYPENTANEDIOIC+ACID'>3HG</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr> |
| - | <tr><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Hydroxymethylglutaryl-CoA_lyase Hydroxymethylglutaryl-CoA lyase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.3.4 4.1.3.4] </span></td></tr> | + | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Hydroxymethylglutaryl-CoA_lyase Hydroxymethylglutaryl-CoA lyase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.3.4 4.1.3.4] </span></td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2cw6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cw6 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2cw6 RCSB], [http://www.ebi.ac.uk/pdbsum/2cw6 PDBsum]</span></td></tr> | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2cw6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cw6 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2cw6 RCSB], [http://www.ebi.ac.uk/pdbsum/2cw6 PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/HMGCL_HUMAN HMGCL_HUMAN]] Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:[http://omim.org/entry/246450 246450]]; also known as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.<ref>PMID:8798725</ref> <ref>PMID:9463337</ref> <ref>PMID:9784232</ref> <ref>PMID:11129331</ref> <ref>PMID:12746442</ref> <ref>PMID:17173698</ref> <ref>PMID:16601870</ref> <ref>PMID:17459752</ref> <ref>PMID:19036343</ref> <ref>PMID:19177531</ref> | [[http://www.uniprot.org/uniprot/HMGCL_HUMAN HMGCL_HUMAN]] Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:[http://omim.org/entry/246450 246450]]; also known as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.<ref>PMID:8798725</ref> <ref>PMID:9463337</ref> <ref>PMID:9784232</ref> <ref>PMID:11129331</ref> <ref>PMID:12746442</ref> <ref>PMID:17173698</ref> <ref>PMID:16601870</ref> <ref>PMID:17459752</ref> <ref>PMID:19036343</ref> <ref>PMID:19177531</ref> | ||
| Line 35: | Line 35: | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hydroxymethylglutaryl-CoA lyase]] | [[Category: Hydroxymethylglutaryl-CoA lyase]] | ||
| - | [[Category: Fu, Z | + | [[Category: Fu, Z]] |
| - | [[Category: Hunt, J F | + | [[Category: Hunt, J F]] |
| - | [[Category: Kim, J J.P | + | [[Category: Kim, J J.P]] |
| - | [[Category: Miziorko, H M | + | [[Category: Miziorko, H M]] |
| - | [[Category: Runquist, J A | + | [[Category: Runquist, J A]] |
[[Category: Hmg-coa lyase]] | [[Category: Hmg-coa lyase]] | ||
[[Category: Ketogenic enzyme]] | [[Category: Ketogenic enzyme]] | ||
[[Category: Lyase]] | [[Category: Lyase]] | ||
Revision as of 16:46, 15 January 2015
Crystal Structure of Human HMG-CoA Lyase: Insights into Catalysis and the Molecular Basis for Hydroxymethylglutaric Aciduria
| |||||||||||
