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 tumor suppressor, which means it normally helps prevent cells from growing and dividing in an uncontrolled way.
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
Related Genetics Topics
- Bladder cancer — MedlinePlus Genetics
- Anophthalmia/Microphthalmia — MedlinePlus Genetics
- Kabuki syndrome — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
Identifiers
- NCBI Gene: 8085
- OMIM: 602113
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
