KMT2A

Histone-lysine-methyltransferase 2A is an enzyme that in humans is encoded by the KMT2A gene. It is a transcriptional coactivator and histone methyltransferase whose SET domain catalyses methylation of lysine 4 on histone H3, a chromatin modification associated with transcriptional activation. Histone-lysine-methyltransferase 2A regulates cell reproduction. It is active in generating blood cells (hematopoiesis) and during early development. KMT2A rearrangements are known genetic translocations of KMT2A and are a cause of acute leukemias and other cancers. Rearrangements of KMT2A are markers for diagnosis, prognosis, and treatment of acute leukemias. Mutations or dysregulation of the KMT2A protein product are also involved in several other types of cancers as well as developmental abnormalities such as Wiedemann-Steiner syndrome. This protein belongs to the group of histone-modifying enzymes comprising transactivation domain 9aaTAD and is involved in the epigenetic maintenance of transcriptional memory. Its role as an epigenetic regulator of neuronal function is an ongoing area of research.