2hgs

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Template:STRUCTURE 2hgs

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

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