NOTCH1 t(7;9)(NOTCH1:M1580_K2555) does not bind JAG2

Stable Identifier
R-HSA-2660816
Type
Reaction [transition]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
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NOTCH1 t(7;9)(NOTCH1:M1580_K2555) mutant, which results from fusion of NOTCH1 intron 24 with the promoter of T-cell receptor TCRB, lacks extracellular EGF repeats involved in ligand binding and is not able to bind to JAG2 (Ellisen et al. 1991).
Literature References
PubMed ID Title Journal Year
1831692 TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms

Smith, SD, Sklar, J, Ellisen, LW, Bird, J, West, DC, Soreng, AL, Reynolds, TC

Cell 1991
Participants
Participates
Normal reaction
Functional status

Loss of function of NOTCH1 t(7;9)(NOTCH1:M1580 K2555) [plasma membrane]

Status
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
T-cell acute lymphoblastic leukemia DOID:5603
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Reviewed
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