Additional sex combs like 2, transcriptional regulator
Additional sex combs like 2, transcriptional regulator (ASXL2) is a protein that in humans is encoded by the ASXL2 gene. The ASXL2 protein is a member of the ASXL family of proteins, which have a role in chromatin regulation.
Function[edit | edit source]
The ASXL2 protein is a Polycomb group (PcG) protein. PcG proteins maintain the transcriptional repressive state of genes, primarily through the modification of chromatin. This particular PcG protein, ASXL2, is thought to mediate such effects via its interaction with the Polycomb repressive complex 2 (PRC2).
Clinical significance[edit | edit source]
Mutations in the ASXL2 gene have been associated with a variety of human diseases, including myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
