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.
Larsson, C, White, I, Lardelli, M, Lendahl, U
Eckfeldt, CE, Bertrand, FE, LeBien, TW, Lysholm, AS
Krantz, ID, Sanchez-Lara, PA, Spinner, NB, Pai, A, Warthen, DM, Piccoli, DA, McDaniell, R
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