GSTM1

glutathione S-transferase mu 1

Pharmacogene

Summary

Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]

Known Variants21 total

rsidPosition (GRCh37)AllelesClassClinVar
rs362100871:110,228,913C/Gupstream gene variant
rs4123021:110,230,016G/A
rs38150261:110,230,073C/Gupstream gene variant
rs41475621:110,230,099A/Tupstream gene variant
rs285492871:110,230,138G/C
rs5532402141:110,230,395C/G
rs11730983851:110,230,515A/Guncertain significance
rs108577951:110,230,767G/Adownstream gene variant
rs5673203931:110,230,800C/Alikely benign
rs7814510041:110,231,736C/Tlikely benign
rs41475651:110,231,777G/Tdownstream gene variant
rs1998169901:110,231,874G/Tbenign
rs2020027741:110,231,901T/Cbenign
rs7566371:110,232,801A/T
rs3683954341:110,232,909A/Cuncertain significance
rs1424840861:110,232,965C/Tbenign
rs1405845941:110,232,983A/Gmissense variant
rs1384403391:110,233,094C/Glikely benign
rs7692951271:110,233,137A/Guncertain significance
rs10654111:110,233,138G/Asynonymous variant
rs10568061:110,233,147C/Tsynonymous variant

Gene information from NCBI Gene. Variant classifications from ClinVar.