| GENE NAME | ELAC2 |
| CHROMOSOME | 17 |
| ENSEMBL ID | ENSG00000006744 |
| ENTREZ ID | 60528 |
| UNIPROT ACCESSION NUMBER | Q9BQ52 |
| GO MOLECULAR FUNCTION | tRNA-specific ribonuclease activity; nuclease activity; endonuclease activity; hydrolase activity; endoribonuclease activity; 3'-tRNA processing endoribonuclease activity; metal ion binding |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-6785470; hsa03013; R-HSA-6784531; hsa03013; R-HSA-8868766; R-HSA-72312; R-HSA-72306; R-HSA-8953854 |
| 1 combination linked to ELAC2 | OLI810 |
| 1 variant linked to ELAC2 | ELAC2:p.Gln92ArgfsTer9 |
| 1 disease linked to ELAC2 | Recurrent exertional rhabdomyolysis |