Nectin1

Enables protein homodimerization activity and signaling receptor activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules and homophilic cell adhesion via plasma membrane adhesion molecules. Acts upstream of or within several processes, including camera-type eye development; desmosome organization; and enamel mineralization. Located in adherens junction; apical junction complex; and cell-cell contact zone. Is active in hippocampal mossy fiber to CA3 synapse and presynaptic active zone membrane. Is expressed in several structures, including brain; oral region epithelium; renal vesicle; sensory organ; and upper jaw molar. Human ortholog(s) of this gene implicated in cleft lip; cleft lip-palate-ectodermal dysplasia syndrome; cleft palate; and ectodermal dysplasia. Orthologous to human NECTIN1 (nectin cell adhesion molecule 1). [provided by Alliance of Genome Resources, Nov 2024]

该基因激活蛋白质同源二聚化活性和信号受体活性。通过质膜细胞粘附分子介导的同种细胞间粘附以及通过质膜粘附分子的异种细胞间粘附参与其中。在包括照相机型眼发育、桥粒组织以及牙釉质矿化等过程中的上游或内部发挥作用。位于粘附斑、极性连接复合体以及细胞间接触区域。在齿状回的苔状纤维至CA3突触及突触前活性区膜中具有活性。在包括大脑、口腔区域上皮、肾小囊、感觉器官以及上颌磨牙等结构中表达。该基因的人类同源基因与唇裂、唇裂-腭裂-外胚层发育不全综合征、腭裂以及外胚层发育不全有关。与人nectin细胞粘附分子1（NECTIN1）同源。[由基因组资源联盟提供，2024年11月]