2jdx: Difference between revisions
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{{STRUCTURE_2jdx| PDB=2jdx | SCENE= }} | {{STRUCTURE_2jdx| PDB=2jdx | SCENE= }} | ||
===CRYSTAL STRUCTURE OF HUMAN L-ARGININE:GLYCINE AMIDINOTRANSFERASE, DELETIONMUTANT ATDELTAM302=== | |||
{{ABSTRACT_PUBMED_9915841}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/GATM_HUMAN GATM_HUMAN]] Defects in GATM are the cause of arginine:glycine amidinotransferase deficiency (AGAT deficiency) [MIM:[http://omim.org/entry/612718 612718]]. AGAT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GATM_HUMAN GATM_HUMAN]] Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.<ref>PMID:16820567</ref><ref>PMID:16125225</ref><ref>PMID:16614068</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:009915841</ref><references group="xtra"/> | <ref group="xtra">PMID:009915841</ref><references group="xtra"/><references/> | ||
[[Category: Glycine amidinotransferase]] | [[Category: Glycine amidinotransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||