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Gene : ATRX Homo sapiens

Name  ? ATRX chromatin remodeler Cytological Location  Xq21.1
Brief Description  ATRX chromatin remodeler
Description  The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]
  • synonyms:
  • U72937,
  • JMS,
  • XH2,
  • HGNC:886,
  • Juberg-Marsidi syndrome,
  • alpha thalassemia/mental retardation syndrome X-linked,
  • XNP,
  • OTTHUMG00000022686,
  • uc004ecp.5,
  • NM_000489,
  • RAD54L,
  • alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog),
  • JMS,
  • ATRX,
  • ZNF-HX,
  • RAD54 homolog (S. cerevisiae),
  • MRX52,
  • XNP,
  • MRX52,
  • RAD54,
  • XH2,
  • RAD54,
  • mental retardation, X-linked 52
  • identifiers:
  • 546,
  • ENSG00000085224,
  • ATRX

Genome feature

Region: gene ? Length: 281358  
Location: X:77504878-77786235 reverse strand Cyto location: Xq21.1


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3 Diseases

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0 Pathways

13 SN Ps

5 Cross References

18 Data Sets

5 Homologues

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97 Rna Seq Results