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ATRX - ATRX chromatin remodeler
- Synonym(s) : RAD54 homolog (S. cerevisiae), XH2, XNP
- Previous symbols and names : JMS, Juberg-Marsidi syndrome, MRX52, RAD54, alpha thalassemia/mental retardation syndrome X-linked, alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog), mental retardation, X-linked 52
- Type : gene with protein product
- Chromosomal location : Xq21.1
- OMIM: 300032
- HGNC: 886
- UniProtKB: P46100
- Genatlas: ATRX
- Ensembl: ENSG00000085224
- IUPHAR-DB: -
- Reactome: P46100
- LOVD: ATRX
Diseases list
- Disease-causing germline mutation(s) in Alpha-thalassemia-X-linked intellectual disability syndrome
ORPHA:847 
- Disease-causing germline mutation(s) in Carpenter-Waziri syndrome
ORPHA:93973 - Disease-causing germline mutation(s) in Chudley-Lowry-Hoar syndrome
ORPHA:93971 - Disease-causing germline mutation(s) in Holmes-Gang syndrome
ORPHA:93970 - Disease-causing germline mutation(s) in Juberg-Marsidi syndrome
ORPHA:93972 - Disease-causing germline mutation(s) in Smith-Fineman-Myers syndrome
ORPHA:93974 - Disease-causing somatic mutation(s) in Alpha-thalassemia-myelodysplastic syndrome
ORPHA:231401 - Candidate gene tested in Neuroendocrine tumor of stomach
ORPHA:100075
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
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