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Symbol ATRX contributors: mct - updated : 09-06-2021
HGNC name alpha thalassemia/mental retardation syndrome X-linked
HGNC id 886
corresponding disease(s) ATRX , JMS , SFMS , CWS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional somatic mutation      
in alpha-thalassemia myelodysplasia syndrome with poor prognosis, germinal mutations associated with besser prognosis
tumoral fusion      
with DAXX in promyelocytic leukemia (localization in nuclear bodies)
constitutional     --low  
results in the transmission of aneuploidy and the occurrence of centromeric breaks leading to a high incidence of structural and numerical chromosome aberrations in the pre-implantation embryo
tumoral somatic mutation      
in genes encoding either of the two subunits of a transcription/chromatin remodeling complex consisting of DAXX (death-domain-associated protein) and ATRX, in pancreatic neuroendocrine tumors
constitutional       loss of function
provokes progressive telomere decondensation that culminates in the inception of persistent telomere replication dysfunction
Variant & Polymorphism
Candidate gene
Therapy target
  • overexpression of ATRX in transgenic mice was associated with growth retardation, neural tube defects, and a high incidence of embryonic death, transgenic mice that survived to birth exhibited a high incidence of perinatal death as well as seizures, mild craniofacial anomalies, and abnormal behavior, in conclusion ATRX dosage is crucial for normal development and organization of the cortex
  • loss of ATRX function during reproductive senescence may contribute to the onset of aneuploidy in the female gamete, and the reduced fertility observed in ATRX knockdown female mice underscores the importance of this model to determine the molecular mechanisms of aneuploidy and its effects on female fertility
  • ScAtrxKO mice developed small testes and discontinuous tubules, due to prolonged G2/M phase and apoptosis of proliferating Sertoli cells during fetal life