ATRX

Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a is_associated_with::protein that in humans is encoded by the ATRX is_associated_with::gene.

Function
Transcriptional regulator ATRX contains an is_associated_with::ATPase / is_associated_with::helicase domain, and thus it belongs to the is_associated_with::SWI/SNF family of is_associated_with::chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis.

Clinical significance
Mutations of the ATRX gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of is_associated_with::DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. Female carriers may demonstrate skewed is_associated_with::X chromosome inactivation.

Interactions
ATRX has been shown to interact with is_associated_with::EZH2.