菜单 基因医生

这个基因编码notch家族的一个成员。这种1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家族成员通过控制细胞命运决定，在多种发育过程中发挥作用。notch信号网络是一种进化上保守的细胞间信号通路，它调节物理相邻细胞之间的相互作用。在果蝇中，notch与其细胞结合配体（delta，serrate）的相互作用建立了一种在发育过程中起关键作用的细胞间信号通路。notch配体的同系物在人类中也已被鉴定，但这些配体与人类notch同系物之间的确切相互作用仍有待确定。这种蛋白质在反式高尔基体网络中被裂解，并以异二聚体的形式出现在细胞表面。这种蛋白作为膜结合配体的受体，可能在血管、肾脏和肝脏的发育中发挥作用。已经发现了两个编码不同亚型的转录变体。[由RefSeq提供，2011年1月]
This gene encodes a member of the Notch family. Members of this Type 1 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 family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]