Notch 3

Notch 3 is a protein that in humans is encoded by the NOTCH3 gene. It is a member of the Notch signaling pathway, a highly conserved cell signaling system present in most multicellular organisms.

Function

Notch 3 is a member of the Notch family of proteins, which play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. The protein encoded by this gene is a receptor for membrane-bound ligands, and may play a role in vascular, renal and hepatic development.

Clinical significance

Mutations in the NOTCH3 gene are associated with CADASIL Syndrome, a rare genetic disorder that causes stroke and other impairments. This gene product is expressed in the vascular smooth muscle cells, and the mutations in this gene are cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Structure

The Notch 3 protein is a single-pass type I membrane protein. It is characterized by a number of structural domains: a signal peptide, 34 EGF-like domains, 3 LIN-12/Notch repeats (LNRs), a heterodimerization domain (HD), a transmembrane domain (TM), and an intracellular domain (ICD).

See also

• Notch signaling pathway
• CADASIL Syndrome
• EGF-like domain
• LIN-12/Notch repeat

References

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