GSTZ1
glutathione S-transferase zeta 1
Summary
This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7160195 | 14:77,786,375 | G/A | upstream gene variant | — |
| rs587777816 | 14:77,786,772 | C/G | — | pathogenic |
| rs545656806 | 14:77,787,529 | C/G | — | likely benign |
| rs776512156 | 14:77,791,235 | G/A | — | uncertain significance |
| rs752025507 | 14:77,791,262 | T/C | — | uncertain significance |
| rs776678047 | 14:77,793,169 | G/A | — | affects |
| rs7975 | 14:77,793,207 | G/A | missense variant | benign |
| rs750964006 | 14:77,793,211 | C/T | — | uncertain significance |
| rs140889171 | 14:77,793,212 | G/A | — | likely benign |
| rs7972 | 14:77,793,237 | G/A | missense variant | benign |
| rs1892347612 | 14:77,793,241 | G/T | — | uncertain significance |
| rs1468951 | 14:77,793,487 | C/A | intron variant | — |
| rs1303562049 | 14:77,793,813 | A/G | — | pathogenic |
| rs2503413142 | 14:77,793,853 | G/T | — | uncertain significance |
| rs200122889 | 14:77,793,896 | G/A | — | pathogenic |
| rs1188799424 | 14:77,794,258 | G/A | — | uncertain significance |
| rs1046428 | 14:77,794,283 | T/C | missense variant | benign |
| rs773031901 | 14:77,794,284 | G/A | — | uncertain significance |
| rs765149962 | 14:77,794,295 | C/T | — | uncertain significance |
| rs747265163 | 14:77,794,297 | C/T | — | other |
| rs140540096 | 14:77,794,333 | G/A | — | likely pathogenic |
| rs369022018 | 14:77,794,337 | G/A | — | uncertain significance |
| rs765201322 | 14:77,794,357 | G/A | — | uncertain significance |
| rs149972480 | 14:77,795,523 | G/A | — | uncertain significance |
| rs199552988 | 14:77,796,125 | C/T | — | affects |
| rs201037059 | 14:77,796,148 | G/A | — | uncertain significance |
| rs731346 | 14:77,796,641 | G/A | — | benign |
| rs1892603919 | 14:77,797,419 | G/T | — | uncertain significance |
| rs143936720 | 14:77,797,452 | A/G | — | likely benign |
| rs112779751 | 14:77,797,471 | T/C | — | likely benign |
| rs772218894 | 14:77,797,486 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.