| 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 |
| H3.3 deposition | The ATRX-DAXX complex deposits histone variant H3.3 at pericentromeric heterochromatin and telomeres |
| Associated Diseases | AD, cancer, glioma, glioma prognosis, gliomas, Ms |
| KG Connections | 91 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!