KMT2E

Histone-lysine N-methyltransferase 2E, also known as myeloid/lymphoid or mixed-lineage leukemia '5', is a protein that in humans is encoded by the gene.

Function

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia 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.