KMT2C
Description
The KMT2C (lysine methyltransferase 2C) is a protein-coding gene located on chromosome 7.
KMT2C, also known as MLL3, is an enzyme involved in the regulation of gene expression. It belongs to the MLL family of proteins and is responsible for adding a methyl group to a specific amino acid (lysine 4) on histone H3, a protein that helps package DNA in the nucleus. This methylation event is crucial for activating genes and is often found at regions of the genome involved in transcription and DNA repair. KMT2C is part of a larger complex called the ASCOM complex, which contains several other proteins that contribute to its function. Mutations in the KMT2C gene are linked to a neurodevelopmental disorder called Kleefstra syndrome-2.
KMT2C, also known as MLL3, is a histone methyltransferase that adds a methyl group to the epsilon-amino group of Lys-4 on histone H3 (H3K4). This results in the formation of H3K4me1 methylation marks, which are predominantly found at active chromatin sites where transcription and DNA repair occur. KMT2C likely works together with KMT2D to increase the H3K4me1 mark on primed and active enhancer elements.
KMT2C is also known as HALR, KLEFS2, MLL3.
