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GSS

Involvement in disease

Glutathione synthetase deficiency

GSS deficiency

Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system.

None

The disease is caused by variants affecting the gene represented in this entry.

Glutathione synthetase deficiency of erythrocytes

GLUSYNDE

Mild form causing hemolytic anemia.

None

The disease is caused by variants affecting the gene represented in this entry.

Pathway

Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2.

Sequence similarities

Belongs to the eukaryotic GSH synthase family.

Alternative names

  • Glutathione synthetase
  • GSH synthetase
  • GSH-S
  • Glutathione synthase
  • GSS

Target type

Proteins

Molecular weight

52385Da