FLCN是抑癌基因,也称为Folliculin。编码蛋白作为一种RagC/D GTPase蛋白的GTPase激活蛋白参与氨基酸感应和向mTORC1通路的转导信号。参与不同的细胞过程,包括调节线粒体氧化代谢、线粒体生物合成和自噬。FLCN突变可以激活mTOR通路和AKT信号传导。FLCN突变发现于Birt-Hogg-Dubé综合征,特征是纤维瘤、气胸和肾细胞癌。在胃癌中也发现了该基因的变异。
FLCN encodes for the tumor suppressor gene Folliculin. It acts as a GTPase activating protein (GAP) for RagC/D GTPase proteins involved in amino acid sensing and signaling to mTORC1. Varying cellular processes have been implicated with its function including regulation of oxidative metabolism at the mitochondria, mitochondrial biogenesis, and autophagy. Mutations can activate the mTOR pathway and AKT signaling. FLCN mutations are found in Birt-Hogg-Dubé syndrome which is characterized by fibrofolliculomas, pneumothorax, and renal cell carcinomas. Mutations have also been identified in gastric cancer.
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