GGT5
gamma-glutamyltransferase 5
Summary
This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs149508893 | 22:24,615,951 | G/A | — | uncertain significance |
| rs532229060 | 22:24,615,979 | C/T | — | uncertain significance |
| rs756906764 | 22:24,616,033 | A/C | — | uncertain significance |
| rs9608253 | 22:24,617,380 | G/A | intron variant | — |
| rs7286276 | 22:24,618,874 | T/C | intron variant | — |
| rs150369701 | 22:24,618,962 | G/A | intron variant | — |
| rs372732410 | 22:24,620,974 | T/C | — | likely benign |
| rs2517369452 | 22:24,621,000 | G/C | — | uncertain significance |
| rs773450659 | 22:24,621,023 | C/T | — | uncertain significance |
| rs1231443668 | 22:24,621,037 | C/T | — | uncertain significance |
| rs758005500 | 22:24,621,074 | C/T | — | uncertain significance |
| rs771235441 | 22:24,621,314 | G/A | — | uncertain significance |
| rs1026801373 | 22:24,621,319 | C/T | — | uncertain significance |
| rs542440435 | 22:24,621,364 | A/C | — | likely benign |
| rs75273222 | 22:24,621,540 | C/T | — | benign |
| rs374828667 | 22:24,621,553 | C/T | — | uncertain significance |
| rs200073930 | 22:24,621,586 | T/C | — | uncertain significance |
| rs2517382212 | 22:24,622,071 | A/C | — | uncertain significance |
| rs531021500 | 22:24,622,109 | C/T | — | likely benign |
| rs755653164 | 22:24,622,110 | G/A | — | uncertain significance |
| rs768187287 | 22:24,622,121 | G/C | — | uncertain significance |
| rs73879043 | 22:24,622,124 | G/A | — | benign |
| rs551778506 | 22:24,622,135 | C/T | — | uncertain significance |
| rs372349468 | 22:24,622,177 | C/T | — | uncertain significance |
| rs149456868 | 22:24,622,188 | C/T | — | conflicting classifications of pathogenicity |
| rs754323634 | 22:24,622,225 | G/A | — | uncertain significance |
| rs1342332963 | 22:24,622,632 | C/A | — | uncertain significance |
| rs2517389251 | 22:24,622,633 | C/T | — | uncertain significance |
| rs2517389436 | 22:24,622,645 | C/G | — | uncertain significance |
| rs9608255 | 22:24,623,137 | T/C | intron variant | — |
| rs28765434 | 22:24,624,011 | T/C | intron variant | — |
| rs9612569 | 22:24,624,035 | C/T | — | — |
| rs139397345 | 22:24,624,488 | A/G | intron variant | — |
| rs34505104 | 22:24,624,609 | A/G | intron variant | — |
| rs757470393 | 22:24,627,402 | G/A | — | uncertain significance |
| rs139273816 | 22:24,627,457 | C/T | — | uncertain significance |
| rs768749416 | 22:24,627,486 | G/A | — | uncertain significance |
| rs200519116 | 22:24,628,014 | C/A | splice region variant | — |
| rs2517425736 | 22:24,628,052 | C/A | — | uncertain significance |
| rs145093915 | 22:24,628,062 | C/T | — | benign |
| rs1419126653 | 22:24,628,076 | C/T | — | uncertain significance |
| rs2517426417 | 22:24,628,100 | C/T | — | uncertain significance |
| rs1313343843 | 22:24,628,151 | G/T | — | uncertain significance |
| rs73396312 | 22:24,628,161 | G/T | — | uncertain significance |
| rs769297020 | 22:24,628,167 | G/C | — | uncertain significance |
| rs765354955 | 22:24,628,792 | G/A | — | uncertain significance |
| rs146969821 | 22:24,628,819 | G/A | — | uncertain significance |
| rs2047987269 | 22:24,628,857 | G/T | — | uncertain significance |
| rs1170751848 | 22:24,628,912 | A/T | — | uncertain significance |
| rs747934573 | 22:24,628,920 | C/T | — | uncertain significance |
| rs989337416 | 22:24,628,921 | G/A | — | uncertain significance |
| rs373209437 | 22:24,628,929 | C/T | — | uncertain significance |
| rs775537028 | 22:24,628,933 | G/C | — | uncertain significance |
| rs768842264 | 22:24,628,942 | C/T | — | uncertain significance |
| rs75413656 | 22:24,629,461 | G/T | — | benign |
| rs141634972 | 22:24,629,489 | G/A | — | uncertain significance |
| rs768268831 | 22:24,629,889 | A/G | — | uncertain significance |
| rs143346756 | 22:24,629,905 | C/T | — | uncertain significance |
| rs200071733 | 22:24,629,911 | T/C | — | likely benign |
| rs894621722 | 22:24,629,926 | C/T | — | uncertain significance |
| rs375314554 | 22:24,629,928 | G/A | — | uncertain significance |
| rs750602004 | 22:24,629,929 | C/T | — | uncertain significance |
| rs749872439 | 22:24,629,944 | C/G | — | uncertain significance |
| rs112624947 | 22:24,631,321 | C/T | intron variant | — |
| rs5751820 | 22:24,635,839 | G/C | — | — |
| rs183316733 | 22:24,636,358 | T/C | regulatory region variant | — |
| rs762968955 | 22:24,640,549 | C/T | — | uncertain significance |
| rs1270601182 | 22:24,640,567 | G/A | — | uncertain significance |
| rs780743484 | 22:24,640,579 | G/C | — | uncertain significance |
| rs753032144 | 22:24,640,618 | C/A | — | uncertain significance |
| rs1301031873 | 22:24,640,630 | C/T | — | likely benign |
| rs1467173003 | 22:24,640,638 | G/A | — | uncertain significance |
| rs2048426262 | 22:24,640,639 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.