KMT2A/MLL Proteins and Enzymes

The MLL gene encodes a DNA-binding protein that methylates histone H3 (see MIM 601128) lys4 (H3K4) and positively regulates expression of target genes, including multiple HOX genes (see MIM 142980). MLL is a frequent target for recurrent translocations in acute leukemias that may be characterized as acute myeloid leukemia (AML; MIM 601626), acute lymphoblastic leukemia (ALL), or mixed lineage (biphenotypic) leukemia (MLL). Leukemias with translocations involving MLL possess unique clinical and ...