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The gene that encodes Additional sex combs-like protein 2 (ASXL2) is a homolog of the drosophila additional sex combs (Asx) gene. Drosophila Asx is in a class of proteins known as ETP (enhancers of trithorax and polycomb). ETP proteins regulate polycomb-group (PcG) and trithorax-group (trxG) proteins which function to modify the methylation of histones and structure of chromatin. Mutations in ASXL1 are implicated in the development of myelodysplastic syndromes (MDS), a group of hematological diseases characterized by ineffective hematopoiesis and a predisposition to acute myeloid leukemia (AML). Alternate names for ASXL2 include ASXH2 and KIAA1685.
