ASXL2 (E6Z3X) Rabbit mAb #71257

Additional sex combs-like protein 2 (ASXL2) is a polycomb-associated protein that interacts with polycomb repressive complex 2 (PRC2), which contains the histone methyltransferase EZH2 and functions to mono-, di-, and tri-methylate histone H3 on lysine 27. These histone marks are associated with transcriptional repression (1). In addition, ASXL2 interacts with BRCA1-associated protein 1 (BAP1), the catalytic subunit of the polycomb repressive deubiquitinase complex (PR-DUB), which functions to de-ubiquitinate histone H2A at lysine 119 and activate transcription (2). ASXL2 functions as a transcriptional regulator of adipogenesis, acting to induce peroxisome proliferator-activated receptor gamma (PPARG) adipocyte differentiation, whereas its paralog ASXL1 functions to inhibit PPARG activity (3). ASXL2 is critical for animal viability and growth, as ASXL2 knockout mice experience partial embryonic lethality, premature death, axial skeletal abnormalities, and reduced bone mineral density (4,5). ASXL2 also plays a role in cancer, where ASXL2 truncation mutations are found in pancreatic, breast, and castration-resistant prostate cancers, albeit infrequently (6-9). ASXL2 is also frequently mutated in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations, and these mutations correlate with a 36% incidence of relapse (10).