KMT2A

Histone-lysine N-methyltransferase 2A also known as acute lymphoblastic leukemia 1 (ALL-1), myeloid/lymphoid or mixed-lineage leukemia (MLL), or zinc finger protein HRX (HRX) is an is_associated_with::enzyme that in humans is encoded by the KMT2A is_associated_with::gene.

MLL is a histone is_associated_with::methyltransferase deemed a positive global regulator of is_associated_with::gene transcription. This is_associated_with::protein belongs to the group of histone-modifying enzymes comprising transactivation domain 9aaTAD; ; ; ; ; and is involved in the is_associated_with::epigenetic maintenance of transcriptional memory.

Clinical significance
Rearrangements of the MLL gene are associated with aggressive acute is_associated_with::leukemias, both lymphoblastic and myeloid. It also may participate in the process of is_associated_with::GAD67 downregulation in is_associated_with::schizophrenia.

Despite being an aggressive leukemia, the MLL rearranged sub-type had the lowest mutation rates reported for any cancer.

Mutations in MLL cause Wiedemann-Steiner syndrome and is_associated_with::Acute lymphoblastic leukemia. The leukemia cells of up to 80 percent of infants with ALL have a chromosomal rearrangement that fuses the MLL gene to a gene on a different chromosome.

Interactions
MLL (gene) has been shown to interact with:


 * is_associated_with::ASH2L,
 * CREBBP,
 * is_associated_with::CTBP1,
 * is_associated_with::HDAC1,
 * HCFC1,
 * is_associated_with::MEN1,
 * PPIE,
 * is_associated_with::PPP1R15A,
 * is_associated_with::RBBP5, and
 * is_associated_with::WDR5.