Background
The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs
to the SWI/SNF family of 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. Mutations in this gene are associated with X-linked
syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome.
These mutations have been shown to cause diverse changes in the pattern of 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.
