FGFR1
小结
FGFR1是致癌基因，编码蛋白是一种受体酪氨酸激酶，是成纤维细胞生长因子受体（FGFR）家族的成员。FGF配体与FGFR1的结合导致下游信号传导途径的快速二聚化和激活，包括PI3K/AKT和MAPK途径。FGFR1是多种细胞功能所必需的，例如胚胎发育，骨骼发生，有丝分裂和分化。FGFR1的胚系突变与存在身体畸形，智力迟钝和神经缺陷的同基因疾病相关。FGFR1的扩增或激活突变在多种癌症中以不同的频率发生，包括肺癌，乳腺癌，前列腺癌，头颈癌和食道癌。
FGFR1 is a receptor tyrosine kinase that is a member of the fibroblast growth factor receptor (FGFR) family. Binding of FGF ligands to FGFR1 results in the rapid dimerization and activation of downstream signaling pathways including the PI3K/AKT and MAPK pathways. FGFR1 is widely expressed and is necessary for a variety of cellular functions such as embryonic development, skeletogenesis, mitogenesis and differentiation. Cell-type specific FGFR1 regulation is dependent on tissue distribution and ligand availability. Germline mutations in FGFR1 are associated with congenic disorders that present with physical malformations, mental retardation and neurologic deficits. Amplifying or activating mutations in FGFR1 occur in varying frequency in multiple cancers including those of the lung, breast, prostate, head and neck and esophagus. In metastatic renal cell carcinoma, FGF signaling mediates acquired treatment resistance from VEGF-directed therapies.