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 KMT2E gene.
Function 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.
Clinical importance Mutations in this gene can cause O'Donnell-Luria–Rodan syndrome, a condition associated with intellectual disability, autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities and epilepsy.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.





