protein 978 words KG: ATRXPROTEIN 2026-03-22
kind:proteinsection:proteinsstate:published
Contents

ATRX Protein

🔬 Protein Info
Gene SymbolATRX
Full NameAlpha Thalassemia/Mental Retardation Syndrome X-Linked
ChromosomeXq21.1
Functionencodes 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 Expressionneural progenitor cells and newly born neurons, consistent with its essential role in neurogenesis[@brub2005]
Subcellular Localization</th><td>Nucleus (heterochromatin, PML bodies, telomeres)</td></tr>
Molecular Weight283 kDa
Amino Acids2492 aa
Pathwaysubiquitin-proteasome
UniProt IDP46100
NCBI Gene ID546
Ensembl IDENSG00000085224
OMIM300032
GeneCardsATRX
Human Protein AtlasATRX
Associated DiseasesAD, Ms, RA, SS, cancer, glioma
KG Connections92 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph