• Source: ASXL1

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 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.




See also


ASXL2
ASXL3




References






External links


Human ASXL1 genome location and ASXL1 gene details page in the UCSC Genome Browser.




Further reading

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• ASXL1
• Bohring–Opitz syndrome
• Chronic myelomonocytic leukemia
• Primary myelofibrosis
• Acute myeloid leukemia
• ASXL3
• List of human protein-coding genes 1
• Ciliopathy
• Clonal hematopoiesis
• BAP1