Contents

ATRX — Alpha Thalassemia/Mental Retardation Syndrome X-Linked

🧬 Gene Info

Gene Symbol	ATRX
Full Name	Alpha Thalassemia/Mental Retardation Syndrome X-Linked
Chromosome	Xq21.1
Function	encodes a large ATP-dependent chromatin remodeler of the SWI/SNF family that plays essential roles in maintaining heterochromatin integrity, telomere stability, and genomic imprinting in the brain.
Primary Expression	neural progenitor cells and newly born neurons, consistent with its essential role in neurogenesis[@brub2005]
Molecular Weight	283 kDa
Amino Acids	2492 aa
Pathways	ubiquitin-proteasome
UniProt ID	P46100
NCBI Gene ID	546
Ensembl ID	ENSG00000085224
OMIM	300032
GeneCards	ATRX
Human Protein Atlas	ATRX
Associated Diseases	AD, Ms, RA, SS, cancer, glioma
KG Connections	92 knowledge graph edges
Databases	GeneCards HPA STRING

Knowledge Graph