2024年12月24日 · ASXL1 (ASXL Transcriptional Regulator 1) is a Protein Coding gene. Diseases associated with ASXL1 include Bohring-Opitz Syndrome and Myelodysplastic Syndrome. Among its related pathways are Metabolism of proteins and Deubiquitination.

2020年7月30日 · ASXL1（Additional sex combs-like）与BAP1（BRCA1-associated protein 1）组成的PR-DUB蛋白复合物是一类重要的表观遗传调控因子，它通过催化组蛋白H2AK119ub的去单泛素化（H2AK119ub1），影响染色质凝缩状态和调控基因转录。...

In Drosophila, the Additional sex combs (Asx) gene 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.

ASXL1是慢性粒单核细胞白血病（CMML）CMML中最常见的基因突变，有ASXL1突变的CMML患者易进展为AML，是预后差的因素。 在约15%的CML急变期患者中会出现ASXL1突变。 突变特点：ASXL1在髓系肿瘤中的突变几乎全部为发生于Exon12的截短型突变，可为无义突变或移码突变，移码突变最多见。 ASXL1突变尤其集中出现于p.583_971区域，占所有突变的95%以上。 ASXL1突变导致多梳蛋白抑制复合体2（PRC2）介导的组蛋白H3K27甲基化功能失活。 2.

2012年3月21日 · The ASXL1 gene can be translocated and fused to the PAX5 gene in acute lymphoblastoid leukemia and altered by germ-line mutations in the Bohring-Opitz syndrome; this severe syndrome leads to death at an early age preventing to know whether susceptibility to hematopoietic diseases might result from ASXL1 germ-line mutations .

Mutations in Additional sex combs-like 1 (ASXL1), a chromatin regulator, are identified in clonal hematopoiesis of indeterminate potential (CHIP), indicating ASXL1 mutations as early events in leukemogenesis. Not surprisingly, they occur at high frequency in myeloid malignancies and associated with poor prognosis.

2025年2月8日 · ASXL1 encodes a polycomb repressive complex protein implicated in chromatin regulation and de novo mutations are a known cause of Bohring-Opitz syndrome. Data suggest that truncated ASXL1 variants contribute to Bohring-Opitz syndrome (BOS) pathology. ASXL1 showed a high frequency of variant among myelodysplastic syndrome patients

More than 20 mutations in the ASXL1 gene have been found to cause Bohring-Opitz syndrome, a condition that causes abnormal head size and shape, distinctive facial features, joint abnormalities, intellectual disability, and other signs and symptoms.

We report that ASXL1 interacts with the cohesin complex, which has been shown to guide sister chromatid segregation and regulate gene expression. Loss of Asxl1 impairs the cohesin function, as reflected by an impaired telophase chromatid disjunction in hematopoietic cells.

An epigenetic regulator, Additional sex combs-like 1 (ASXL1), is one of the most frequently mutated genes in all subtypes of myeloid malignancies. ASXL1 mutations are also frequently detected in clonal hematopoiesis, which is associated with an increased risk of mortality.