EHMT1 Rabbit pAb

The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. Synonyma: GLP, GLP1, KMT1D, KLEFS1, FP13812, EHMT1-IT1, EUHMTASE1, Eu-HMTase1, EHMT1