X-Linked Alpha Thalassemia Mental Retardation Syndrome
High Quality Content by WIKIPEDIA articles! Caused by mutations in the ATRX gene. ATR X syndrome is characterised by severe learning difficulties, a characteristic facial appearance, abnormal genitalia and alpha thalassemia. The ATR protein affects the 3D structure of chromatin in the cell nucleus. Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene. Transcriptional regulator ATRX 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.