Kmt2d

ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); histone H3K4 methyltransferase activity (ortholog); transcription cis-regulatory region binding (ortholog); INVOLVED IN heterochromatin formation (ortholog); in utero embryonic development (ortholog); oocyte growth (ortholog); PARTICIPATES IN histone modification pathway; lysine degradation pathway; ASSOCIATED WITH autism spectrum disorder (ortholog); autosomal dominant intellectual developmental disorder 26 (ortholog); BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (ortholog); FOUND IN MLL3/4 complex (ortholog); INTERACTS WITH 17beta-estradiol; 4,4'-sulfonyldiphenol; amphetamine

编码一种具有DNA结合转录激活因子活性（同源）的蛋白质；组蛋白H3K4甲基转移酶活性（同源）；转录顺式调控区结合（同源）；参与异染色质形成（同源）；参与胚胎发育（同源）；参与卵母细胞生长（同源）；参与组蛋白修饰途径；参与赖氨酸降解途径；与自闭症谱系障碍（同源）相关；与常染色体显性智力发育障碍26（同源）相关；与鳃弓异常、鼻孔闭锁、无耳、听力丧失和甲状腺功能减退症综合症（同源）相关；存在于MLL3/4复合物中（同源）；与17β-雌二醇、4,4'-磺酰二苯酚、安非他明相互作用。