ATRX, also named as RAD54L and XH2, belongs to the SNF2/RAD54 helicase family. ATR could be a global transcriptional regulator. ATRX modifies gene expression by affecting chromatin. It may be involved in brain development and facial morphogenesis. Defects in ATRX are the cause of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) which is an X-linked disorder comprising severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. Defects in ATRX are the cause of mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) which also called Carpenter-Waziri syndrome (CWS), Juberg-Marsidi syndrome (JMS), Smith-Fineman-Myers syndrome type 1 (SFM1). This antibody is specific to ATRX.
