DefinitionThis section has been translated automatically.
The NOTCH2 gene encodes members of the Notch family, a type 1 transmembrane protein family composed of an extracellular domain (consisting of several epidermal growth factor-like repeats - EGF), and an intracellular domain.
The members of the Notch family play a role in a variety of developmental processes by determining cell and organ fate decisions. The NOTCH2 receptor functions as a receptor for various membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1). This signaling pathway influences the implementation of differentiation, proliferation and apoptotic programs. It is involved in bone remodeling and homeostasis. The activity of the NFATc1 promoter is enhanced and the differentiation of osteoclasts induced by RANKL is positively influenced.
ClinicThis section has been translated automatically.
NOTCH2 (Notch 2) is a protein coding gene. Diseases associated with NOTCH2 include Alagille syndrome and Haydu-Cheney syndrome.
Prof. Dr. med. Peter Altmeyer