IGF1R
小结
IGF1R是致癌基因，编码蛋白是I型类胰岛素生长因子受体，是一种激活参与生长和细胞存活的下游通路的酪氨酸激酶。IGF1R结合多个配体，包括高亲和力配体（胰岛素样生长因子I（IGF1））和低亲和力配体（胰岛素，胰岛素样生长因子II（IGF2））。IGF1R与配体结合后可以激活两个致癌途径，PI3-激酶/AKT通路和RAS-MAPK通路。IGF1R的某几个错义突变与IGF1R的基础活性的改变有关。IGF1R在多种癌症中过表达，其在细胞系中的过度表达可诱导转化。IGF1R在多种癌症类型发生突变/扩增的频率大约为8%。
IGF1R gene encodes the Type I insulin-like growth factor receptor, a tyrosine kinase which activates downstream pathways involved in growth and cell survival. IGF1R binds several ligands, including high affinity ligands (insulin-like growth factor I (IGF1)) and low-affinity ligands (insulin, insulin-like growth factor II (IGF2)). Binding to ligands activates two oncogenic pathways, the PI3-kinase/AKT pathway and the RAS-MAPK pathway. Missense mutations of IGF1R are observed across the entire gene body, and several of these mutations have been linked to changes in the basal activity of IGF1R. IGF1R is over-expressed in several cancers, and its over-expression in cell lines can induce transformation. IGF1R is frequently mutated/amplified across a variety of cancer types (frequency ~8%).