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Molecule Information:
Notch-2
Entrez Gene IDs:
4853 (Human); 29492 (Rat)
Background:
Notch-2
The four mammalian Notch receptors appear to have distinct functions, since they do not compensate for one another in genetic studies. Mutations in Notch receptors also lead to specific developmental disorders. For example, Notch-3 is predominantly expressed in the developing central nervous system of mice. Mutations in Notch-3 in humans cause an autosomal dominant condition called CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). This disorder is characterized by recurrent ischemic strokes at an early age without any underlying vascular risk and progressive dementia.
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