ASXL1

ASXL1

ASXL1 (Additional Sex Combs-Like 1) is a gene that encodes a protein involved in chromatin remodeling and transcriptional regulation. Mutations in the ASXL1 gene have been implicated in various hematological malignancies and developmental disorders.

Function

The ASXL1 protein is part of the Polycomb group (PcG) of proteins, which are involved in maintaining the transcriptional repression of genes through chromatin modification. ASXL1 interacts with other proteins to form complexes that modify histones, thereby influencing gene expression. It plays a crucial role in regulating the expression of genes involved in development and differentiation.

Clinical Significance

Mutations in the ASXL1 gene are associated with several medical conditions, including:

• Myelodysplastic syndromes (MDS)
• Chronic myelomonocytic leukemia (CMML)
• Acute myeloid leukemia (AML)
• Bohring-Opitz syndrome

These mutations often result in a loss of function of the ASXL1 protein, leading to dysregulation of gene expression and contributing to the pathogenesis of these diseases.

Research and Therapeutic Implications

Research into ASXL1 has focused on understanding its role in normal cellular processes and how its dysfunction contributes to disease. Therapeutic strategies are being explored to target the pathways affected by ASXL1 mutations, with the aim of developing treatments for the associated conditions.

Also see

• Chromatin remodeling
• Polycomb group proteins
• Histone modification
• Gene expression regulation