- Concept UI
- M000631684
- Registry Numbers
- EC 3.6.4.12
- 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
-
X-linked Nuclear Protein
Preferred Term
Term UI
T000924512
Date05/15/2017
LexicalTag
NON
ThesaurusID
NLM (2018)
-
ATRX Protein
Term UI
T000924513
Date05/15/2017
LexicalTag
ABX
ThesaurusID
NLM (2018)
-
RAD54 Homolog Protein
Term UI
T000924514
Date05/15/2017
LexicalTag
ABX
ThesaurusID
NLM (2018)