The ASXL1 (Additional Sex Combs-Like 1) antibody is a tool used to study the ASXL1 protein, a critical epigenetic regulator involved in chromatin modification and transcriptional regulation. ASXL1. part of the ASXL family (ASXL1-3), interacts with the BAP1 deubiquitinase complex to modulate histone H2AK119 ubiquitination, influencing gene expression patterns. It plays essential roles in hematopoiesis, stem cell maintenance, and cellular differentiation.
Mutations in the ASXL1 gene are recurrently observed in myeloid malignancies, including myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and chronic myelomonocytic leukemia (CMML), often correlating with poor prognosis. These mutations frequently lead to truncated proteins that disrupt normal epigenetic regulation, promoting leukemogenesis.
ASXL1 antibodies are widely employed in research to detect protein expression, localization, and interaction partners via techniques like Western blotting, immunohistochemistry (IHC), and immunoprecipitation (IP). They aid in identifying ASXL1 loss or aberrant isoforms in patient samples, supporting diagnostic and mechanistic studies. Additionally, ASXL1 antibodies contribute to exploring its tumor-suppressive or oncogenic roles in different contexts, as well as its interplay with other epigenetic modifiers.
Despite challenges in specificity due to shared epitopes among ASXL family members, validated antibodies remain crucial for unraveling ASXL1's role in disease and normal physiology, with potential implications for targeted therapies.