2hgs
From Proteopedia
(Difference between revisions)
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| - | [[Image:2hgs.png|left|200px]] | ||
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{{STRUCTURE_2hgs| PDB=2hgs | SCENE= }} | {{STRUCTURE_2hgs| PDB=2hgs | SCENE= }} | ||
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===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]] | ||
Revision as of 04:54, 25 March 2013
Contents |
HUMAN GLUTATHIONE SYNTHETASE
Template:ABSTRACT PUBMED 10369661
Disease
[GSHB_HUMAN] Defects in GSS are the cause of glutathione synthetase deficiency (GSS deficiency) [MIM: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:231900]. Glutathione synthetase deficiency of erythrocytes is a mild form causing hemolytic anemia.
About this Structure
2hgs is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Polekhina G, Board PG, Gali RR, Rossjohn J, Parker MW. Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. EMBO J. 1999 Jun 15;18(12):3204-13. PMID:10369661 doi:10.1093/emboj/18.12.3204
- Galant A, Arkus KA, Zubieta C, Cahoon RE, Jez JM. Structural basis for evolution of product diversity in soybean glutathione biosynthesis. Plant Cell. 2009 Nov;21(11):3450-8. Epub 2009 Nov 30. PMID:19948790 doi:10.1105/tpc.109.071183
