In a small percent of T-ALL patients, the translocation t(7;9)(q34;q34.3) fuses intron 24 of NOTCH1 gene with the promoter of T cell receptor beta gene. This results in deregulated expression of a truncated NOTCH1 protein, which lacks ligand binding activity and is constitutivelu processed into NICD1 (Ellisen et al. 1991).
Smith, SD, Sklar, J, Ellisen, LW, Bird, J, West, DC, Soreng, AL, Reynolds, TC
© 2022 Reactome