基因名称：SETD2 （SET domain containing 2, histone lysine methyltransferase）
别名： LLS,HYPB,SET2,HIF-1,HIP-1,KMT3A,HBP231,HSPC069,p231HBP
基因ID：29072
Chromosome(GRCh37) ：3 Start: 47057898 End: 47205467 Strand:
信号通路： 能量代谢
靶向药：
化疗药：
简介：亨廷顿病（hd）是一种以纹状体神经元丧失为特征的神经退行性疾病，是由hd蛋白亨廷顿蛋白中的多聚谷氨酸束扩张引起的。该基因编码一种属于以ww基序为特征的huntingtin相互作用蛋白的蛋白质。该蛋白是一种组蛋白甲基转移酶，对组蛋白h3的赖氨酸-36具有特异性，该残基的甲基化与活性染色质有关。该蛋白还含有一个新的转录激活结构域，已被发现与高磷酸化rna聚合酶ii相关。[由RefSeq提供，2008年8月]Huntington’s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
SETD2突变与药物：
