{"symbol":"KMT2D","synonyms":["MLL2","TNRC21","CAGL114","KABUK1","AAD10","MLL4"],"name":"lysine (K)-specific methyltransferase 2D","description":"The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]","ncbiEntrezGeneId":8085,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/8085","proteins":[{"symbol":"KMT2D_HUMAN","href":"/api/1.0/protein/KMT2D_HUMAN"}],"hgncRootFamilies":[{"name":"Chromatin-modifying enzymes","href":"/api/1.0/gene_family/Chromatin-modifying+enzymes"},{"name":"Trinucleotide repeat containing (TNRC)","href":"/api/1.0/gene_family/Trinucleotide+repeat+containing+%28TNRC%29"},{"name":"Zinc fingers","href":"/api/1.0/gene_family/Zinc+fingers"}]}