GeneID: 47


Common Name: GSTM1 Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NG_009246.1 (GSTM1)
HUGO Symbol: GSTM1 Full Name: glutathione S-transferase mu 1
Exons: 8 Introns: 7

GSTM1 is a member of the glutathione S-transferase (GST) family of detoxification enzymes, which catalyse conjugation reactions between the reduced form of glutathione (a nucleophile) and a variety of electrophilic compounds, such as environmental toxins and carcinogens. The glutathione system protects cells against damage from oxidative stress by reducing oxygen-free radicals. As oxidative stress would promote sickling of HbS, genetic polymorphisms of GSTs are expected to modulate the phenotype and/or severity of sickle cell disease (SCD). GSTs are encoded by polymorphic genes divided into five classes: α, ζ, μ, π, and θ. The GSTM1 gene encodes a GST that belongs to the μ class, of which null mutations have been linked to the development of specific cancers. The GSTM1 null genotype has been associated with myocardial iron overload in β-thalassemia major patients, as well as with modulation of red-blood cell traits in sickle cell disease. Multiple protein isoforms are encoded by transcript variants of this gene.

Synonyms: H-B , MU


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Publications / Origin

  1. Wu KH, Chang JG, Ho YJ, Wu SF, Peng CT, Glutathione S-transferase M1 gene polymorphisms are associated with cardiac iron deposition in patients with beta-thalassemia major., Hemoglobin , 30(2), 251-6, 2006 PubMed
  2. Patskovsky Y, Patskovska L, Almo SC, Listowsky I, Transition state model and mechanism of nucleophilic aromatic substitution reactions catalyzed by human glutathione S-transferase M1a-1a., Biochemistry , 45(12), 3852-62, 2006 PubMed
  3. Origa R, Satta S, Matta G, Galanello R, Glutathione S-transferase gene polymorphism and cardiac iron overload in thalassaemia major., Br. J. Haematol. , 142(1), 143-5, 2008 PubMed
  4. Silva DG, Belini Junior E, Torres Lde S, Ricci Júnior O, Lobo Cde C, Bonini-Domingos CR, de Almeida EA, Relationship between oxidative stress, glutathione S-transferase polymorphisms and hydroxyurea treatment in sickle cell anemia., Blood Cells Mol. Dis. , 47(1), 23-8, 2011 PubMed
  5. Mokhtar GM, Sherif EM, Habeeb NM, Abdelmaksoud AA, El-Ghoroury EA, Ibrahim AS, Hamed EM, Glutathione S-transferase gene polymorphism: Relation to cardiac iron overload in Egyptian patients with Beta Thalassemia Major., Hematology , 21(1), 46-53, 2016 PubMed
  6. Abu-Duhier F, Mir R, GSTT1 (rs4025935) null genotype is associated with increased risk of sickle cell disease in the populations of Tabuk-Northwestern region of Saudi Arabia., Hematology , 2016 PubMed
Created on 2016-04-25 15:24:21, Last reviewed on 2018-05-03 19:34:05 (Show full history)

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