菜单 基因医生

该基因编码一种分泌的糖蛋白，属于信号素3类神经引导线索家族。编码的蛋白质包含一个n端的sema结构域、整合素和免疫球蛋白样结构域以及一个c端的碱性结构域。c-末端预肽的均聚和蛋白水解是编码蛋白功能所必需的。它结合神经素PIN受体，然后用相关的丛蛋白形成异三聚体复合物。这种基因表达的增加与癌细胞侵袭和粘附的增加有关。这种基因的自然突变与先天性巨结肠疾病有关。[由RefSeq提供，2017年5月]
This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]