基因名称：ASXL1 （additional sex combs like 1, transcriptional regulator）
别名： BOPS,MDS
基因ID：171023
Chromosome(GRCh37) ：20 Start: 30946155 End: 31027122 Strand: 1
信号通路： 基因组不稳定
靶向药：
化疗药：
简介：这个基因类似于果蝇的附加性梳基因，它编码一种染色质结合蛋白，这是正常确定发育中胚胎的片段特性所必需的。该蛋白是多梳蛋白组的一员，是维持稳态和其他基因座稳定抑制所必需的。这种蛋白质被认为会破坏局部区域的染色质，增强某些基因的转录，同时抑制其他基因的转录。该基因编码的蛋白与核受体辅活化子1协同作为维甲酸受体的配体依赖性辅活化子。该基因突变与骨髓增生异常综合征和慢性骨髓单核细胞白血病有关。选择性剪接导致多个转录变体。This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants.
ASXL1突变与药物：
MUTATION
药物：
Ziv-阿柏西普
疾病：
急性髓性白血病 骨髓增生异常综合征 骨髓纤维化
EXON 12 MUTATION
药物：
Ziv-阿柏西普
疾病：
“急性髓性白血病”
