BLMH
bleomycin hydrolase
Summary
Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1050565 | 17:28,576,076 | T/C | missense variant | benign |
| rs148225971 | 17:28,576,085 | C/T | — | uncertain significance |
| rs116194289 | 17:28,576,106 | C/T | — | uncertain significance |
| rs189598890 | 17:28,578,014 | A/G | upstream gene variant | — |
| rs148894198 | 17:28,579,420 | A/G | downstream gene variant | — |
| rs75076615 | 17:28,580,395 | C/T | downstream gene variant | — |
| rs181126944 | 17:28,584,612 | C/T | intron variant | — |
| rs3794806 | 17:28,586,903 | T/G | intron variant | — |
| rs146534500 | 17:28,587,761 | C/T | intron variant | — |
| rs2129785 | 17:28,590,530 | T/C | intron variant | — |
| rs137881719 | 17:28,598,294 | C/A | stop gained | — |
| rs2509637646 | 17:28,598,348 | G/C | — | uncertain significance |
| rs368088469 | 17:28,599,609 | T/C | — | uncertain significance |
| rs754513319 | 17:28,599,613 | A/C | — | uncertain significance |
| rs372310785 | 17:28,599,778 | G/A | — | uncertain significance |
| rs758428403 | 17:28,599,805 | A/G | — | uncertain significance |
| rs2509638826 | 17:28,599,875 | T/C | — | uncertain significance |
| rs542996699 | 17:28,599,877 | T/C | — | uncertain significance |
| rs868352189 | 17:28,601,172 | G/A | — | uncertain significance |
| rs185533580 | 17:28,606,498 | G/A | intron variant | — |
| rs140233429 | 17:28,608,636 | A/G | intron variant | — |
| rs2509645511 | 17:28,612,456 | C/T | — | uncertain significance |
| rs1356575674 | 17:28,614,937 | G/C | — | uncertain significance |
| rs760721245 | 17:28,614,940 | C/T | — | likely benign |
| rs755776639 | 17:28,616,497 | C/T | — | uncertain significance |
| rs143544764 | 17:28,618,350 | T/C | — | likely benign |
| rs1597670127 | 17:28,618,413 | G/A | — | uncertain significance |
| rs755077784 | 17:28,618,497 | T/A | — | uncertain significance |
| rs150144290 | 17:28,618,517 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.