The Gene Encoding Human Glutathione Synthetase (GSS) Maps to the Long Arm of Chromosome 20 at Band 11.2

Webb, Graham C.; Vaska, V.; Gali, Rayappa R.; Ford, Judith H.; Board, P.G.

doi:10.1006/geno.1995.1287

Cited by 27 publications

(17 citation statements)

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“…rat kidney [3], Escherichia coli [4] and yeast [5], but until now not to homogeneity from any human tissue. The human enzyme functions as a homodimer, with subunits containing 474 amino acid residues [6], encoded by a gene located on chromosome 20q11.2 [7]. Eighteen different mutations from 16 patients with GS deficiency have been described [8][9][10].…”

Section: Introductionmentioning

confidence: 99%

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency

Njålsson

Carlsson

Olin

et al. 2000

Biochemical Journal

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Patients with hereditary glutathione synthetase (GS) (EC 6.3.2.3) deficiency present with variable clinical pictures, presumably related to the nature of the mutations involved. In order to elucidate the relationship between genotype, enzyme function and clinical phenotype, we have characterized enzyme kinetic parameters of missense mutations R125C, R267W, R330C and G464V from patients with GS deficiency. One of the mutations predominantly affected the K m value, with decreased affinity for glycine, two mutations influenced both K m and V max values, and

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Section: Introductionmentioning

confidence: 99%

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency

Njålsson

Carlsson

Olin

et al. 2000

Biochemical Journal

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“…This gene is located on chromosome 20q11.22, contains 13 exons, and encodes a 474 amino acid enzyme. 19 Our patient presented with 2 heterozygous missense mutations, which both affect conserved amino acids in the catalytic domain. The mutation c.656A>G; pAsp219Gly has been previously reported only in mild form 7,8 and showed decreased kinetics.…”

Section: Discussionmentioning

confidence: 92%

Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency

et al. 2016

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Hemolytic anemia (HA) of the newborn should be considered in cases of rapidly developing, severe, or persistent hyperbilirubinemia. Several causes of corpuscular hemolysis have been described, among which red blood cell enzyme defects are of particular concern. We report a rare case of red blood cell enzyme defect in a male infant, who presented during his first months of life with recurrent and isolated neonatal hemolysis. All main causes were ruled out. At 6.5 months of age, the patient presented with gastroenteritis requiring hospitalization; fortuitously, urine organic acid chromatography revealed a large peak of 5-oxoproline. Before the association between HA and 5-oxoprolinuria was noted, glutathione synthetase deficiency was suspected and confirmed by a low glutathione synthetase concentration and a collapse of glutathione synthetase activity in erythrocytes. Moreover, molecular diagnosis revealed 2 mutations in the glutathione synthetase gene: a previously reported missense mutation (c.[656A>G]; p.[Asp219Gly]) and a mutation not yet described in the binding site of the enzyme (c.[902T>C]; p.[Leu301Pro]). However, 15 days later, a control sample revealed no signs of 5-oxoprolinuria and the clinical history discovered administration of acetaminophen in the 48 hours before hospitalization. Thus, in this patient, acetaminophen exposure allowed the diagnosis of a mild form of glutathione synthetase deficiency, characterized by isolated HA. Early diagnosis is important because treatment with bicarbonate, vitamins C and E, and elimination of trigger factors are recommended to improve long-term outcomes. Glutathione synthetase deficiency should be screened for in cases of unexplained newborn HA.

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“…GSH is synthesized from glutamate, cysteine and glycine. The final step in its synthesis is catalysed by the enzyme glutathione synthetase (GS) The human GS enzyme is a homodimer with 52 kDa of subunits containing 474 amino acid residues, encoded by a single-copy gene located on chromosome 20q11.2 (Webb et al, 1995;. GS deficiency is a rare autosomal recessive disorder.…”

Section: Point Mutation In Glutathione Synthetasementioning

confidence: 99%

Point Mutations That Reduce Erythrocyte Resistance to Oxidative Stress

Volosnikov¹,

Serebryakova²

2012

Point Mutation

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The Gene Encoding Human Glutathione Synthetase (GSS) Maps to the Long Arm of Chromosome 20 at Band 11.2

Cited by 27 publications

References 0 publications

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency

Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency

Point Mutations That Reduce Erythrocyte Resistance to Oxidative Stress

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