菜单 基因医生

该基因编码表皮生长因子超家族的一个成员。编码的前蛋白被蛋白水解产生53个氨基酸的表皮生长因子肽。这种蛋白是一种有效的有丝分裂因子,在多种细胞类型的生长、增殖和分化中起着重要作用。这种蛋白通过与细胞表面受体、表皮生长因子受体高亲和力结合而起作用。该基因缺陷是导致4型低镁血症的原因。这种基因的失调与某些癌症的生长和发展有关。选择性剪接导致多个转录变体,其中至少一个编码蛋白水解前处理。
This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed.

基因名:EGF
别名:HOMG4,URG
基因ID:1950
Chromosome:
(GRCh37)
4 Start: 110834040 End: 110933422 Strand: 1
信号通路: 细胞增殖 
靶向药: 西妥昔单抗 
化疗药:
EGF 基因突变与药物