這個基因編碼notch蛋白家族的一個成員。這種I型跨膜蛋白家族的成員具有相同的結構特征,包括由多個表皮生長因子樣(EGF)重復序列組成的胞外結構域和由多個不同結構域類型組成的胞內結構域。notch信號通路是一種進化上保守的細胞間信號通路,通過notch家族受體與其同源配體的結合來調節物理相鄰細胞之間的相互作用。編碼的前蛋白在反高爾基網絡中進行蛋白質水解,生成兩條異二聚體形成成熟細胞表面受體的多肽鏈。這種受體可能在血管、腎臟和肝臟的發育中起作用。這個基因的突變可能與精神分裂癥有關。選擇性剪接導致多個轉錄變體,其中至少一個編碼蛋白質水解處理的亞型。[由RefSeq提供,2016年1月]
This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]