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 ...
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 ...
(E) Western blot of ERK, pERK, and b-actin on Kmt2d KO tumors treated with vehicle, SHP099, afatinib, and a combination of SHP099 and afatinib for 3 days. (F) Heatmap showing the changes in KRAS signaling do...
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...
带有嘌呤霉素、潮霉素或放线菌酮抗性的慢病毒CRISPRv2质粒是从Addgene获得的(98293、98290和98291)。 成功的CRISPR–Cas9编辑通过western blotting或surveyor测定法进行了验证(M0302,New England Biolabs)。 引导RNA和用于surveyor测定法的引物序列列在补充表4中。
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: ...
5 Kubo, N.et al.H3K4me1 facilitates promoter-enhancer interactions and gene activation during embryonic stem cell differentiation.Mol Cell84, 1742-1752 e1745, doi:10.1016/j.molcel.2024.02.030 (2024). 6 Lee, J. E.et...
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...
关键词:歌舞伎综合征;先天性心脏病;主动脉弓断裂;KMT2D 基因;新发变异 Phenotypic analysis of Kabuki syndrome caused by new pathogenic variation of KMT2D gene LU Huimin 1 , DUAN Lifen 2 , YE Lei 2 , WANG Xiaohui 1 , Bian Cheng 1 , CHU Jiayou 1 , YANG Zhaoqing 1 (1. Department of ...
KMT2D抗体;KMT2D多克隆抗体 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