該基因編碼第三個被發現的果蠅黑腹型膜蛋白缺口的人類同源物。在果蠅中，notch與細胞結合配體（delta，serate）的相互作用建立了一個細胞間信號通路，在神經發育中起著關鍵作用。Notch配體的同系物也已在人類中鑒定出來，但這些配體與人類Notch同系物之間的精確相互作用仍有待確定。Notch3突變被認為是伴有皮質下梗死和白質腦病（CADASIL）的大腦常染色體顯性動脈病變的根本原因。
This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
