ASXL transcriptional regulator 3 (ASXL3)

ASXL transcriptional regulator 3 (ASXL3) is a member of the ASXL (Additional sex combs-like) protein family that acts as an epigenetic regulator and transcriptional co-factor, primarily by scaffolding chromatin-modifying complexes at specific genomic loci[1][2][3]. ASXL3 contains multiple conserved domains, including a plant homeodomain (PHD) zinc finger, and forms complexes such as PR-DUB, which mediate deubiquitination of histone H2A and therefore modify chromatin accessibility and gene expression[1][2]. It negatively regulates lipogenesis by inhibiting nuclear hormone receptors (LXR-alpha and thyroid hormone receptor beta)[1]. Mutations in ASXL3 cause developmental syndromes such as Bainbridge-Ropers syndrome, and have also been implicated in autism, various cancers (including melanoma and high-grade glioma), and possibly other conditions[1][2][3]. While its exact druggability remains unclear, ASXL3 is considered a potential therapeutic target due to its central role in chromatin regulation and disease[1][2][3].

Other names

KIAA1713Additional sex combs like 3, transcriptional regulatorAdditional sex combs-like protein 3Putative polycomb group protein ASXL3BRPS

Modulation of epigenetic regulatory complexes (e.g., PR-DUB, Polycomb, Trithorax) Chromatin remodeling via histone modification Regulation of transcription factor recruitment