Gene Symbol | EHMT1 |
Entrez Gene ID | 79813 |
Full Name | euchromatic histone lysine methyltransferase 1 |
Synonyms | EHMT1-IT1,EUHMTASE1,Eu-HMTase1,FP13812,GLP,GLP1,KLEFS1,KMT1D |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Kleefstra syndrome 1, 610253 (3) |