NOTCH4基因突变与药物因子介绍
这个基因编码notch蛋白家族的一个成员。这种I型跨膜蛋白家族的成员具有相同的结构特征，包括由多个表皮生长因子样（EGF）重复序列组成的胞外结构域和由多个不同结构域类型组成的胞内结构域。notch信号通路是一种进化上保守的细胞间信号通路，通过notch家族受体与其同源配体的结合来调节物理相邻细胞之间的相互作用。编码的前蛋白在反高尔基网络中进行蛋白质水解，生成两条异二聚体形成成熟细胞表面受体的多肽链。这种受体可能在血管、肾脏和肝脏的发育中起作用。这个基因的突变可能与精神分裂症有关。选择性剪接导致多个转录变体，其中至少一个编码蛋白质水解处理的亚型。[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]
