2hgs: Difference between revisions
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{{STRUCTURE_2hgs| PDB=2hgs | SCENE= }} | {{STRUCTURE_2hgs| PDB=2hgs | SCENE= }} | ||
===HUMAN GLUTATHIONE SYNTHETASE=== | ===HUMAN GLUTATHIONE SYNTHETASE=== | ||
{{ABSTRACT_PUBMED_10369661}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/GSHB_HUMAN GSHB_HUMAN]] Defects in GSS are the cause of glutathione synthetase deficiency (GSS deficiency) [MIM:[http://omim.org/entry/266130 266130]]; also known as 5-oxoprolinuria or pyroglutamic aciduria. It is a severe form characterized by an increased rate of hemolysis and defective function of the central nervous system. Defects in GSS are the cause of glutathione synthetase deficiency of erythrocytes (GLUSYNDE)[MIM:[http://omim.org/entry/231900 231900]]. Glutathione synthetase deficiency of erythrocytes is a mild form causing hemolytic anemia. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010369661</ref><ref group="xtra">PMID:019948790</ref><references group="xtra"/> | <ref group="xtra">PMID:010369661</ref><ref group="xtra">PMID:019948790</ref><references group="xtra"/><references/> | ||
[[Category: Glutathione synthase]] | [[Category: Glutathione synthase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
