鸟嘌呤核苷酸结合蛋白q多肽(Guanine nucleotide binding protein q polypeptide,GNAQ)是GTP结合蛋白异源三聚体的组成部分,能够通过结合细胞表面受体介导下游信号通路。最近的研究发现,葡萄酒色斑(Port-wine stains,PWS)中GNAQ p.Arg183点突变,可能介导细胞外信号调节激酶(Extracellular signal-regulated kinase,ERK)信号通路。本文对GNAQ基因突变可能介导的下游信号通路,包括丝裂原活化蛋白激酶(mitogen-activated protein kinase,MAPK)、G蛋白信号调节因子5(regulator of G protein signaling 5,RGS5)、蛋白激酶C(protein kinase C,PKC)和YAP等信号通路进行综述。

G-alpha-q （GNAQ） is the alpha subunit of the heterotrimeric GTP-binding proteins that mediates the regulators of several downstream signaling through coupling cell surface receptors. Recently, lesions within port-wine stains are found harbor mutations in GNAQ p.Arg183 and may at least associate with ERK （extracellular signal-regulated kinase） signaling pathways. In this paper, the mutations of GNAQ within port-wine stains and the multiple activated signaling targets downstream of mutant GNAQ, including MAPK, RGS5, PKC and YAP pathways were reviewed.