ASXL transcriptional regulator 1 (ASXL1)

ASXL transcriptional regulator 1 (ASXL1) is a Polycomb group protein essential for chromatin remodeling and epigenetic regulation of gene expression, especially during development and hematopoiesis. ASXL1 serves dual roles as a transcriptional co-activator and corepressor for nuclear hormone receptors, modulates histone marks through the PR-DUB complex (deubiquitinating H2A at Lys-119), and senses DNA methylation, directly influencing gene silencing. Mutations in ASXL1 are clinically significant: loss-of-function mutations cause the rare developmental disorder Bohring-Opitz syndrome, while somatic gain-of-function mutations are frequent in myeloid malignancies (MDS, AML, CMML), making ASXL1 an important biomarker and potential therapeutic target in oncology.

Other names

ASXL1Polycomb group protein ASXL1KIAA0978Additional sex combs-like protein 1BOPSMDSLOC228790additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1putative Polycomb group protein ASXL1 isoform 1putative Polycomb group protein ASXL1 isoform 2

For cancers: Potential inhibition or modulation of mutant ASXL1 protein function, disruption of gain-of-function or loss-of-function mutations influencing chromatin state. For gene therapies: Correction or replacement of defective ASXL1 gene/protein is hypothetical in preclinical research.