ASXL3

ASXL3

ASXL3 (Additional Sex Combs Like 3) is a gene that encodes a protein involved in chromatin remodeling and gene expression regulation. It is part of the ASXL family of proteins, which are known to play critical roles in epigenetic regulation and development.

Function

The ASXL3 protein is involved in the regulation of gene expression through its role in chromatin modification. It is thought to interact with other proteins to form complexes that modify histones, thereby influencing the accessibility of DNA to transcription factors. This process is crucial for the proper regulation of genes during development and cellular differentiation.

Clinical Significance

Mutations in the ASXL3 gene have been associated with a rare genetic disorder known as Bainbridge-Ropers syndrome. This condition is characterized by developmental delay, intellectual disability, and distinctive facial features. The syndrome is caused by de novo mutations, meaning they are new mutations that occur in the affected individual and are not inherited from the parents.

Research

Ongoing research is focused on understanding the precise molecular mechanisms by which ASXL3 mutations lead to the symptoms observed in Bainbridge-Ropers syndrome. Studies are also exploring potential therapeutic approaches to mitigate the effects of these mutations.

Also see

• ASXL1
• ASXL2
• Chromatin remodeling
• Epigenetics
• Bainbridge-Ropers syndrome

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