2ald: Difference between revisions
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{{STRUCTURE_2ald| PDB=2ald | SCENE= }} | {{STRUCTURE_2ald| PDB=2ald | SCENE= }} | ||
===HUMAN MUSCLE ALDOLASE=== | |||
{{ABSTRACT_PUBMED_10048322}} | |||
== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ALDOA_HUMAN ALDOA_HUMAN]] Defects in ALDOA are the cause of glycogen storage disease type 12 (GSD12) [MIM:[http://omim.org/entry/611881 611881]]; also known as red cell aldolase deficiency. A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.<ref>PMID:14766013</ref><ref>PMID:2825199</ref><ref>PMID:2229018</ref><ref>PMID:8598869</ref><ref>PMID:14615364</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ALDOA_HUMAN ALDOA_HUMAN]] Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010048322</ref><references group="xtra"/> | <ref group="xtra">PMID:010048322</ref><references group="xtra"/><references/> | ||
[[Category: Fructose-bisphosphate aldolase]] | [[Category: Fructose-bisphosphate aldolase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
