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Structure of 53BP1 Tandem Tudor domains with E1549P and D1550N mutationsStructure of 53BP1 Tandem Tudor domains with E1549P and D1550N mutations
Structural highlights
DiseaseTP53B_HUMAN Note=A chromosomal aberration involving TP53BP1 is found in a form of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;15)(q33;q22) with PDGFRB creating a TP53BP1-PDGFRB fusion protein. FunctionTP53B_HUMAN Plays a key role in the response to DNA damage. May have a role in checkpoint signaling during mitosis. Enhances TP53-mediated transcriptional activation.[1] [2] References
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