Lysine methyltransferase 2E (KMT2E)

Lysine methyltransferase 2E (KMT2E), also known as MLL5, is a member of the mixed-lineage leukemia (MLL/KMT2) family and encodes a protein structurally characterized by an N-terminal PHD zinc finger and a central SET domain. Although grouped with other histone methyltransferases, KMT2E lacks demonstrable intrinsic histone methyltransferase activity, making it functionally distinct from classical MLL/KMT2 family members. KMT2E regulates gene expression by associating with chromatin regions downstream of active gene promoters and mediates key cellular processes including cell cycle regulation, genomic stability, and hematopoietic differentiation. Mutations in KMT2E are linked to a spectrum of neurodevelopmental disorders (intellectual disability, autism, macrocephaly, epilepsy) and may contribute to cancer pathogenesis, particularly leukemia. The role of KMT2E in human disease underscores its biological and research interest, although no approved drugs or targeted therapies currently exist.

Other names

Inactive histone-lysine N-methyltransferase 2EMLL5Myeloid/lymphoid or mixed-lineage leukemia protein 5SETD5BHDCMC04PNKp44LODLURO