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Protein Coding Gene : Atrx ATRX, chromatin remodeler

Primary Identifier  MGI:103067 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  22589
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables chromatin binding activity and histone binding activity. Involved in several processes, including cellular response to hydroxyurea; positive regulation of DNA metabolic process; and subtelomeric heterochromatin formation. Acts upstream of or within several processes, including male gonad development; positive regulation of transcription by RNA polymerase II; and post-embryonic forelimb morphogenesis. Located in PML body and chromosome. Part of pericentric heterochromatin. Is expressed in several structures, including alimentary system; early embryo; egg cylinder; genitourinary system; and nervous system. Used to study alpha thalassemia-X-linked intellectual disability syndrome. Human ortholog(s) of this gene implicated in X-linked mental retardation-hypotonic facies syndrome-1; alpha thalassemia-X-linked intellectual disability syndrome; alpha-thalassemia myelodysplasia syndrome; high grade glioma; and lung small cell carcinoma. Orthologous to human ATRX (ATRX chromatin remodeler).
PHENOTYPE: Mice homozygous for a floxed allele activated in different tissues at different time points can serve as a model of alpha-thalassemia/mental retardation syndrome, nondeletion type, X-linked. [provided by MGI curators]
  • synonyms:
  • MGI:1914653,
  • alpha thalassemia/mental retardation syndrome X-linked,
  • Atrx,
  • MGI:2147885,
  • expressed sequence AI447451,
  • heterochromatin protein 2, binding protein 2,
  • X-linked nuclear protein,
  • MGI:109370,
  • 4833408C14Rik,
  • RAD54 homolog, (S. cerevisiae),
  • HP1-BP38,
  • DNA segment, Chr X, human DXS6677E,
  • MGD-MRK-38415,
  • XH2,
  • Xnp,
  • ATRX, chromatin remodeler,
  • MGD-MRK-23929,
  • Rad54,
  • MGD-MRK-18764,
  • AI447451,
  • RIKEN cDNA 4833408C14 gene,
  • MGD-MRK-16212,
  • DXHXS6677E,
  • Hp1bp2

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