{"symbol":"EHMT1","synonyms":["FP13812","KMT1D","EHMT1-IT1","EUHMTASE1","KLEFS1","BA188C12.1","EU-HMTASE1"],"name":"euchromatic histone-lysine N-methyltransferase 1","description":"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]","ncbiEntrezGeneId":79813,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/79813","proteins":[{"symbol":"EHMT1_HUMAN","href":"/api/1.0/protein/EHMT1_HUMAN"}],"hgncRootFamilies":[{"name":"Chromatin-modifying enzymes","href":"/api/1.0/gene_family/Chromatin-modifying+enzymes"},{"name":"Ankyrin repeat domain containing (ANKRD)","href":"/api/1.0/gene_family/Ankyrin+repeat+domain+containing+%28ANKRD%29"}]}