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ASXL 转录调节因子 1(ASXL1)基因

功能概要

该基因类似于果蝇额外的性梳基因,该基因编码一种染色质结合蛋白,该蛋白是正常确定发育中胚胎片段身份所需的。该蛋白质是 Polycomb 蛋白质组的成员,是维持稳定抑制同源基因座和其他基因座所必需的蛋白质。该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。由该基因编码的蛋白质与核受体共激活因子 1 一起作为视黄酸受体的配体依赖性共激活因子发挥作用。该基因的突变与骨髓增生异常综合征和慢性粒单核细胞白血病有关。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 9 月]

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. [provided by RefSeq, Sep 2009]

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