- Concept UI
- M000631684
- 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).
- Terms
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X-linked Nuclear Protein
Preferred Term
Term UI
T000924512
Date05/15/2017
LexicalTag
NON
ThesaurusID
NLM (2018)
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ATRX Protein
Term UI
T000924513
Date05/15/2017
LexicalTag
ABX
ThesaurusID
NLM (2018)
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RAD54 Homolog Protein
Term UI
T000924514
Date05/15/2017
LexicalTag
ABX
ThesaurusID
NLM (2018)