GeneID: 47


Names

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

Description:
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

Comments:
N/A

Number of entries/variants: 1

IthaScore

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
  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
  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
  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
  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
  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
Created on 2016-04-25 15:24:21, Last reviewed on 2018-05-03 19:34:05 (Show full history)


Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.