2cw6: Difference between revisions

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-[[Image:2cw6.png|left|200px]]
 {{STRUCTURE_2cw6|  PDB=2cw6  |  SCENE=  }}
+===Crystal Structure of Human HMG-CoA Lyase: Insights into Catalysis and the Molecular Basis for Hydroxymethylglutaric Aciduria===
+{{ABSTRACT_PUBMED_16330550}}
-===Crystal Structure of Human HMG-CoA Lyase: Insights into Catalysis and the Molecular Basis for Hydroxymethylglutaric Aciduria===
+==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>
-{{ABSTRACT_PUBMED_16330550}}
+==Function==
+[[http://www.uniprot.org/uniprot/HMGCL_HUMAN HMGCL_HUMAN]] Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism.<ref>PMID:8566388</ref><ref>PMID:22865860</ref><ref>PMID:22847177</ref>
 ==About this Structure==
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 ==Reference==
-<ref group="xtra">PMID:016330550</ref><references group="xtra"/>
+<ref group="xtra">PMID:016330550</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Hydroxymethylglutaryl-CoA lyase]]