Anti-ASXL2 from rabbit

Putative Polycomb group protein ASXL2 (UniProt: Q76L83; also known as Additional sex combs-like protein 2) is encoded by the ASXL2 (also known as ASXH2, KIAA1685) gene (Gene ID: 55252) in human. ASXL2 is a putative Polycomb group (PcG) protein that acts by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. It is not required to initiate repression, but is essential to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility. ASXL2 is shown to be involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). It also acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. ASXL2 is reported to be essential for haematopoiesis and acts as a haploinsufficient tumor suppressor in leukemia. ASXL2 gene is one of most commonly mutated genes in AML patients bearing the AML1-ETO fusion oncoprotein and loss of ASXL2 is shown to promote AML1-ETO-mediated leukemogenesis. ASXL2 protein contains two LXXLL motifs (aa 303-307 and 887-891), which are required for an association with nuclear receptors. It also contains an atypical PHD-type zinc finger regions (aa 1397-1434). Two isoforms of ASXL2 are reported that are produced by alternative splicing. Mutation in ASXL2 gene have also been linked to the development of Shashi-Pena syndrome that is characterized by delayed psychomotor development, intellectual disability, and macrocephaly, and neonatal feeding difficulties. (Ref.: Micol, JB et al. (2017). Nat. Commun. DOI: 10.1038/ncomms15429).