NF2是抑癌基因,也称为Merlin,编码蛋白是一种膜-细胞骨架支架蛋白,主要在神经组织中表达。 NF2在间接连接肌动蛋白-跨膜受体和细胞内效应物中很重要,用以调节控制细胞增殖和存活的信号传导途径。这些包括受体酪氨酸激酶(RTK)的下游信号传导途径,细胞粘附,小GTP酶,mTOR,PI3K / Akt和hippo通路。NF2的胚系突变与神经纤维瘤病2型相关,其与良性中枢神经系统(CNS)肿瘤如前庭神经鞘瘤等神经系统的肿瘤相关。NF2在其他类型的癌症中发现体细胞突变。
NF2, also known as Merlin, is a membrane-cytoskeleton scaffolding protein that is expressed predominantly in nervous tissues. NF2 is important in indirectly linking actin-transmembrane receptors and intracellular effectors to modulate signaling pathways controlling cell proliferation and survival. These include downstream signaling pathways of receptor tyrosine kinases (RTKs), cell adhesion, small GTPases, mTOR, PI3K/Akt and hippo pathways. NF2 is a tumor suppressor. Germline inactivation of NF2 by mutation or deletion results in the autosomal dominant tumor syndrome Neurofibromatosis Type 2, which is associated with the development of benign central nervous system (CNS) tumors such as vestibular schwannomas. NF2 is found to be somatically mutated in other types of cancers.
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