ASXL2

ASXL2, also known as ASXL2 gene or ASXL2 protein, is a gene located on chromosome 12 in humans. It belongs to the ASXL (ASXL transcription regulator) gene family, which plays a crucial role in gene regulation and epigenetic processes. The ASXL2 gene encodes a protein that is thought to be involved in the epigenetic control of gene expression, likely through its interaction with chromatin remodeling complexes. These complexes are essential for altering the structure of DNA and associated proteins, thereby influencing whether genes can be accessed and transcribed.

Mutations or alterations in the ASXL2 gene have been associated with certain developmental disorders. While research is ongoing, some studies suggest a link between ASXL2 dysfunction and conditions affecting growth, facial features, and intellectual development. The precise mechanisms by which ASXL2 contributes to these disorders are still being investigated. Understanding the normal function of ASXL2 and how its disruption leads to disease is an active area of research aimed at potentially developing therapeutic strategies for related conditions.