| GENE NAME | KMT5A |
| CHROMOSOME | 12 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000183955 |
| UNIPROT ACCESSION NUMBER | Q9NQR1 |
| GO MOLECULAR FUNCTION | ['histone-lysine N-methyltransferase activity', 'lysine N-methyltransferase activity', 'p53 binding', 'protein binding', 'transcription corepressor activity', 'protein-lysine N-methyltransferase activity', 'histone methyltransferase activity (H4-K20 specific)'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa00310; hsa01100; R-HSA-1640170; R-HSA-212436; R-HSA-2299718; R-HSA-3214841; R-HSA-3247509; R-HSA-3700989; R-HSA-4839726; R-HSA-5633007; R-HSA-6804760; R-HSA-68875; R-HSA-68886; R-HSA-69278; R-HSA-73857; R-HSA-74160 |
| 1 combination linked to KMT5A | OLI1709 |
| 1 variant linked to KMT5A | KMT5A:c.31C>T, p.Arg11Cys |
| 1 disease linked to KMT5A | Rare pervasive developmental disorder |