Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene. [5][6] In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo.

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.

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.

The ASXL1 gene provides instructions for making a protein that is involved in a process known as chromatin remodeling. Learn about this gene and related health conditions.

2012年3月21日 · ASXL1 mutations are found in myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia (AML). They are generally associated with signs of …

2022年4月14日 · New research from Mayo Clinic's Center for Individualized Medicine finds that patients with ASXL1-mutant chronic myelomonocytic leukemia — an uncommon type of cancer of the bone marrow — have distinctive epigenetic changes that can activate harmful genes and cause the cancer to grow faster.

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.

2025年2月8日 · ASXL1 mutation is a novel risk factor for bleeding in Philadelphia-negative myeloproliferative neoplasms. Targeting lysine demethylase 6B ameliorates ASXL1 truncation-mediated myeloid malignancies in preclinical models. Prognostic value of ASXL1 mutations in patients with myelodysplastic syndromes and acute myeloid leukemia: A meta-analysis.

2021年11月5日 · Introduction: ASXL1 mutations are frequently seen across the clinical spectrum of myeloid neoplasia. The most commonly identified ASXL1 mutation represents a single base duplication within an 8-guanine repeat at nucleotide position 1934 (c.1934dupG).

2011年12月22日 · We identified an ASXL1 mutation-associated gene-expression signature, but no microRNA-expression signature. This first study of ASXL1 mutations in primary CN-AML demonstrates that ASXL1 mutated older patients, particularly within the ELN Favorable group, have unfavorable outcomes and may be candidates for experimental treatment approaches.