3mp4: Difference between revisions

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-{{Seed}}
-[[Image:3mp4.png|left|200px]]
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 {{STRUCTURE_3mp4|  PDB=3mp4  |  SCENE=  }}
 ===Crystal structure of Human lyase R41M mutant===
+{{ABSTRACT_PUBMED_20558737}}
+==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>
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+==Function==
-The line below this paragraph, {{ABSTRACT_PUBMED_20558737}}, adds the Publication Abstract to the page
+[[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>
-(as it appears on PubMed at http://www.pubmed.gov), where 20558737 is the PubMed ID number.
--->
-{{ABSTRACT_PUBMED_20558737}}
 ==About this Structure==
-MP4 is a 6 chains structure with sequences 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=3MP4 OCA].
+[[3mp4]] 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=3MP4 OCA].
 ==Reference==
-<ref group="xtra">PMID:20558737</ref><references group="xtra"/>
+<ref group="xtra">PMID:020558737</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Hydroxymethylglutaryl-CoA lyase]]
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 [[Category: Lyase]]
 [[Category: R41m]]
-''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Nov 24 13:00:26 2010''