2ojw: Difference between revisions
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{{STRUCTURE_2ojw| PDB=2ojw | SCENE= }} | {{STRUCTURE_2ojw| PDB=2ojw | SCENE= }} | ||
===Crystal structure of human glutamine synthetase in complex with ADP and phosphate=== | |||
{{ABSTRACT_PUBMED_18005987}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/GLNA_HUMAN GLNA_HUMAN]] Defects in GLUL are the cause of congenital systemic glutamine deficiency (CSGD) [MIM:[http://omim.org/entry/610015 610015]]. CSGD is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine is largely absent from affected patients serum, urine and cerebrospinal fluid.<ref>PMID:16267323</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GLNA_HUMAN GLNA_HUMAN]] This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts.<ref>PMID:18662667</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018005987</ref><references group="xtra"/> | <ref group="xtra">PMID:018005987</ref><references group="xtra"/><references/> | ||
[[Category: Glutamate--ammonia ligase]] | [[Category: Glutamate--ammonia ligase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||