lysine methyltransferase 2D
Last updated 26 Sept 2025
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The KMT2D gene, also known as MLL2, provides instructions for making an enzyme called lysine-specific methyltransferase 2D that is found in many organs and tissues of the body. Lysine-specific methyltransferase 2D functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases control (regulate) the activity of certain genes. Lysine-specific methyltransferase 2D appears to activate certain genes that are important for development.
Normal function
The KMT2D gene, also known as MLL2, provides instructions for making an enzyme called lysine-specific methyltransferase 2D that is found in many organs and tissues of the body. Lysine-specific methyltransferase 2D functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases control (regulate) the activity of certain genes. Lysine-specific methyltransferase 2D appears to activate certain genes that are important for development.
Lysine-specific methyltransferase 2D is also believed to act as a tumour suppressor, which means it normally helps prevent cells from growing and dividing in an uncontrolled way.
Conditions referring to this gene or chromosome
Other names
AAD10
ALL1-related protein
ALR
CAGL114
histone-lysine N-methyltransferase MLL2
KMT2B
lysine (K)-specific methyltransferase 2D
lysine N-methyltransferase 2B
MLL2
MLL2_HUMAN
MLL4
myeloid/lymphoid or mixed-lineage leukemia 2
TNRC21
trinucleotide repeat containing 21
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Further reading and references
- lysine methyltransferase 2D; MedlinePlus, National Library of Medicine.
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- Liu S, Hong X, Shen C, Shi Q, Wang J, Xiong F, Qiu Z. Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations. BMC Med Genet. 2015 Apr 21;16:26. doi: 10.1186/s12881-015-0171-4.
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