Lysine (K)-specific methyltransferase 2A, a gene with the official symbol KMT2A, is commonly known as MLL. MLL encodes for a protein involved in regulating gene expression during early development and hematopoiesis (Gene 2013). In cancer, rearrangements involving MLL have been observed in AML and ALL. Its role is also being investigated in gastric, colorectal, and other cancers.

Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3) is a gene that encodes for a protein involved in cell growth and maintenance (GenAtlas 2013). In cancer, rearrangements involving MLLT3 have been observed in AML. MLLT3 is also known as AF9.

The MLL-MLLT3 fusion has been observed in AML and B lymphoblastic leukemia/lymphoma (Takachi et al. 2011; Metzler et al. 2004​).

Related Pathways

Contributors: Adam Seegmiller, M.D., Ph.D., Madan Jagasia, M.B.B.S., M.S.

Suggested Citation: Seegmiller, A., Jagasia, M. 2015. MLL-MLLT3. My Cancer Genome (Updated December 2015)

Modified: December 4, 2015

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