Histone-lysine N-methyltransferase 2E, also known as myeloid/lymphoid or mixed-lineage leukemia 5 (MLL5), is a protein that in humans is encoded by the gene.
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized.
Mutations in this gene can cause O'Donnell-LuriaâÂÂRodan syndrome, a condition associated with intellectual disability, autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities and epilepsy.