ASH1L : ASH1 like histone lysine methyltransferase


Description

The ASH1L (ASH1 like histone lysine methyltransferase) is a protein-coding gene located on chromosome 1.

The ASH1L gene provides instructions for making an enzyme, called lysine-specific methyltransferase 2H, found in various organs and tissues. This enzyme acts as a histone methyltransferase, modifying proteins called histones, which are structural proteins that bind to DNA and shape chromosomes. By adding a methyl group to histones (methylation), ASH1L controls the activity of certain genes. Specifically, it appears to activate genes critical for brain development.

ASH1L is a histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3, forming H3K36me3. It also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro, but the physiological significance of this activity is unclear.

ASH1L is also known as ASH1, ASH1L1, KMT2H, MRD52.

Associated Diseases


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