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Concept information

Preferred term

X-linked Nuclear Protein  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • ATRX Protein
  • Homolog Protein, RAD54
  • RAD54 Homolog Protein

Scope note

  • ATP-dependent DNA helicase that contains two N-terminal ZINC FINGERS and C-terminal ATP-binding and helicase domains. It functions in the regulation of gene transcription and CHROMATIN REMODELING. ATRX undergoes cell-cycle dependent phosphorylation, which causes it to translocate from the NUCLEAR MATRIX to CHROMATIN; thus, it may change its role from gene regulation during INTERPHASE to ensuring proper chromosome segregation at MITOSIS. Mutations in the ATRX gene are associated with cases of X-LINKED MENTAL RETARDATION co-morbid with ALPHA-THALASSEMIA (ATRX syndrome).

History note

  • 2018

In other languages

URI

http://www.yso.fi/onto/mesh/D000075924

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