Neurogenic locus notch homolog protein 3 (Notch 3) is a protein that in humans is encoded by the NOTCH3 gene. [5][6] This gene encodes the third discovered human homologue of the Drosophila melanogaster type I membrane protein notch.

CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder and is thought to be caused by mutations of the NOTCH3 gene on chromosome 19. [1] . The disease belongs to a family of disorders called the leukodystrophies.

A series of Notch 3 pathogenic mutations have been identified to cause protein misfolding and receptor aggregation. Accumulation and deposition of Notch 3 extracellular domain within vessel walls is a key pathological feature in CADASIL patients.

Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders.

The NOTCH3 gene provides instructions for making a protein with one end (the intracellular end) that remains inside the cell, a middle (transmembrane) section that spans the cell membrane, and another end (the extracellular end) that projects from the outer surface of the cell.

Notch3 is one of four mammalian Notch proteins, which act as signalling receptors to control cell fate in many developmental and adult tissue contexts. Notch signalling continues to be important in the adult organism for tissue maintenance and ...

2024年12月25日 · NOTCH3 (Notch Receptor 3) is a Protein Coding gene. Diseases associated with NOTCH3 include Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 and Lateral Meningocele Syndrome .

Notch signaling is conserved in C. elegans, Drosophila, and mammals. Among the four NOTCH genes in humans, NOTCH1, NOTCH2, and NOTCH3 are known to cause monogenic hereditary disorders. Most NOTCH -related disorders are congenital and caused by a gain or loss of Notch signaling activity.

2018年9月10日 · In this review article, we discuss recent progress in establishing the molecular basis for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL; OMIN No. 125310), which is a cerebral small vessel disease (SVD) caused by mutations in the NOTCH3 gene.

2025年1月4日 · 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.