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. 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.[6]
^ abcGRCh38: Ensembl release 89: ENSG00000171456 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000042548 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Fisher CL, Berger J, Randazzo F, Brock HW (Mar 2003). "A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11". Gene. 306: 115–26. doi:10.1016/S0378-1119(03)00430-X. PMID 12657473.
Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene. In Drosophila, the Additional sex combs (Asx) gene encodes...
pharmacologically. It is expected that additional markers (e.g., RUNX1, ASXL1, and TP53) that have consistently been associated with an inferior outcome...
protein that in humans is encoded by the ASXL3 gene. Polycomb-group proteins ASXL1 ASXL2 GRCh38: Ensembl release 89: ENSG00000141431 – Ensembl, May 2017 GRCm38:...
abnormalities have intermediate prognoses. Somatic mutations in genes such as ASXL1 and EZH2 are associated with a poor prognosis. CMML has a 20–30% chance...
humans, the PR-DUB complex is formed through the interaction of BAP1 and ASXL1 (Asx in fruit flies) BAP1 has also been shown to associate with other factors...
mutations in one of their ASXL1 genes. Since mutations in this gene are associated with CMML independently of GATA2 mutations, ASXL1 mutations may promote...
genetic abnormalities are associated with the disease: 1) mutations in NRAS, ASXL1, and TP53; 2) deletions of the CDKN2A-ARF-CDKN2B locus on the short arm...
these fall into the categories of epigenetic regulators (DNMT3a, TET2, and ASXL1), signaling proteins (JAK2), spliceosome components (SF3B1 and SRSF2), or...
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