The ASH1L gene, also known as KMT2H, provides instructions for making an enzyme, called lysine-specific methyltransferase 2H, that is found in many organs and tissues of the body. Lysine-specific methyltransferase 2H 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 2H appears to turn on (activate) certain genes that are especially important for development of the brain.
Other Names
absent small and homeotic disks protein 1 homolog; ASH1; ash1 (absent, small, or homeotic)-like; ASH1-like protein; ASH1L1; histone-lysine N-methyltransferase ASH1L; huASH1; KMT2H; lysine N-methyltransferase 2H; probable histone-lysine N-methyltransferase ASH1L
Related Genetics Topics
Identifiers
- NCBI Gene: 55870
- OMIM: 607999
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
