ATRX : ATRX chromatin remodeler
Description
The ATRX gene, located on chromosome X, encodes a crucial protein involved in chromatin remodeling and DNA replication. It plays a vital role in regulating gene expression and maintaining genomic stability. ATRX protein functions as a component of the chromatin remodeling complex, facilitating the deposition of histone H3.3, a key histone variant, at specific genomic regions. This process is essential for proper gene regulation, DNA replication, and telomere maintenance. Mutations in the ATRX gene can lead to a spectrum of developmental and neurological disorders, characterized by intellectual disability, seizures, and distinctive facial features. Understanding the intricate functions of ATRX is critical for deciphering its role in human health and developing potential therapeutic strategies for ATRX-related disorders.
Associated Diseases
- Alpha-thalassemia/mental retardation syndrome (ATR-X syndrome)
- X-linked mental retardation with α-thalassemia
- X-linked intellectual disability
- Other developmental disorders
Did you know?
ATRX mutations are often associated with specific facial features, including a prominent forehead, a broad nasal bridge, and a small chin.
