Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

ATRX

contributors: mct - updated : 09-06-2021

HGNC name	alpha thalassemia/mental retardation syndrome X-linked
HGNC id	886

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ATRX , JMS , SFMS , CWS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	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