ATRX gene codifies for a
protein member of the SWI-SNF family and was cloned for the first time over 25 years ago as the gene responsible for a rare developmental disorder characterized by α-
thalassemia and
intellectual disability called
Alpha Thalassemia/
mental Retardation syndrome X-linked (
ATRX) syndrome. Since its discovery as a helicase involved in
alpha-globin gene transcriptional regulation, our understanding of the multiple roles played by the
ATRX protein increased continuously, leading to the recognition of this multifaceted
protein as a central "caretaker" of the human genome involved in
cancer suppression. In this review, we report recent advances in the comprehension of the ATRX manifold functions that encompass
heterochromatin epigenetic regulation and maintenance, telomere function, replicative stress response,
genome stability, and the suppression of endogenous
transposable elements and exogenous viral genomes.