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.

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.

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.

Over the past 10 years, pathogenic variants in the additional sex combs-like (ASXL) genes have been found to lead to distinct neurodevelopmental syndromes (Bainbridge, et al., 2013; Shashi, et al., 2017; Hoischen, et al., 2011). The ASXL family is comprised of three genes in humans: ASXL1, ASXL2, and ASXL3.

2025年2月8日 · ASXL1 gene mutation is associated with chronic myeloid leukemia. ASXL1 mutations are associated with refractory anemia with ring sideroblasts and thrombocytosis. Mutations of the polycomb-associated gene ASXL1 is associated with myelodysplastic syndromes and acute myeloid leukemia.

3 天之前 · Patients with ASXL1 mutations often respond poorly to hypomethylating agents, driving interest in alternative epigenetic therapies. ASXL1 mutations are also implicated in chronic myelomonocytic leukemia (CMML), primary myelofibrosis (PMF), and certain solid tumors, where they disrupt chromatin landscapes and differentiation programs.

ASXL1, additional sex comb-like 1, is recurrently mutated in a range of myeloid malignancies, including MDS, AML, and chronic myelomonocytic leukemia, and has been noted to be one of the most commonly occurring mutations in patients with clonal hematopoiesis and MDS [7–9].