这个基因编码的蛋白质是组蛋白甲基转移酶,它甲基化组蛋白H3的Lys-4位置。编码蛋白是一种叫做抗坏血酸的大蛋白复合物的一部分,它被证明是β-珠蛋白和雌激素受体基因的转录调节器。这种基因的突变被证明是导致歌舞伎综合征的原因。
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.

基因名:KMT2D
别名:AAD10,ALR,CAGL114,KABUK1,KMS,MLL2,MLL4,TNRC21
基因ID:8085
Chromosome:
(GRCh37)
12 Start: 49412758 End: 49453557 Strand: -1
信号通路: 组蛋白修饰  肿瘤干细胞 
靶向药: AR-42 
化疗药:
登录 后查看 KMT2D基因突变 详细信息。