XB-FEAT-980567

atrx

This is the community wiki page for the gene atrx please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

3.31.2022

The gene name for XB-GENEPAGE-980567 has changed from alpha thalassemia/mental retardation syndrome X-linked to ATRX chromatin remodeler

This follows a request to the NCBI to remove 'retardation' or any 'R' referencing retardation be removed from FMRP and any other terminology linked to fragile x in the gene database(s) as this is outdated and offensive terminology. SEE: "The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations" : https://www.mdpi.com/2073-4409/11/6/1044. It is written on behalf of 17 fragile x family associations calling for the removal of 'retardation' as the term is discriminatory and stigmatic.

summary for human ATRX from NCBI

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. [provided by RefSeq, Jul 2017]