1fa9: Difference between revisions
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{{STRUCTURE_1fa9| PDB=1fa9 | SCENE= }} | {{STRUCTURE_1fa9| PDB=1fa9 | SCENE= }} | ||
===HUMAN LIVER GLYCOGEN PHOSPHORYLASE A COMPLEXED WITH AMP=== | |||
{{ABSTRACT_PUBMED_10949035}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PYGL_HUMAN PYGL_HUMAN]] Defects in PYGL are the cause of glycogen storage disease type 6 (GSD6) [MIM:[http://omim.org/entry/232700 232700]]. A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected.<ref>PMID:9529348</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PYGL_HUMAN PYGL_HUMAN]] Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010949035</ref><references group="xtra"/> | <ref group="xtra">PMID:010949035</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Phosphorylase]] | [[Category: Phosphorylase]] | ||