基因名称:KMT2C (lysine methyltransferase 2C)
别名: HALR,MLL3
基因ID:58508
Chromosome(GRCh37) :7 Start: 151832010 End: 152133090 Strand: -1
信号通路: 组蛋白修饰
基因组不稳定
靶向药: 依西美坦
来曲唑片
化疗药:阿那曲唑
简介:该基因是髓系/淋巴系或混合系白血病(MLL)家族的成员,编码核蛋白,具有AT-Hook DNA结合域、DHHC型锌指、六个PhD型锌指、一个集合域、一个后集合域和一个环状锌指。该蛋白是ASC-2/NCOA6复合物(ASCOM)的成员,具有组蛋白甲基化活性,参与转录协同激活。
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation.
KMT2C突变与药物:
MUTATION
药物:
Ziv-阿柏西普
疾病:
皮肤鳞状细胞癌
LOSS-OF-FUNCTION
药物:
阿那曲唑 Exemestane [USAN:INN:BAN] 来曲唑片
疾病:
乳腺癌