The NOTCH2 gene maps to human chromosome 1. NOTCH2 gene expression is differentially regulated during human B-cell development, with NOTCH2 transcripts appearing at late developmental stages. NOTCH2 mutations are a rare cause of Alagille syndrome. Alagille syndrome is a dominant multisystem disorder mainly characterized by hepatic bile duct abnormalities, and is predominantly caused by mutations in JAG1, a NOTCH2 ligand.
Bertrand, FE, Eckfeldt, CE, Lysholm, AS, LeBien, TW
Larsson, C, Lardelli, M, White, I, Lendahl, U
McDaniell, R, Warthen, DM, Sanchez-Lara, PA, Pai, A, Krantz, ID, Piccoli, DA, Spinner, NB
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