GNAS是致癌基因，编码蛋白是异源三聚体的鸟嘌呤核苷酸结合蛋白（G-蛋白）膜复合物的刺激性G-α亚基，是一种细胞内信号蛋白。由激动剂刺激的G-偶联蛋白受体（GPCR）激活的G蛋白信号激活信号转导级联反应，其调节细胞生长和发育。在分泌生长激素的垂体肿瘤中发现GNAS激活突变与McCune-Albright综合征的内分泌增生相关。GNAS基因的点突变（R201和Q227）可导致组成型信号传导活性，导致细胞增殖和肿瘤发生。在结肠癌、甲状旁腺和卵巢癌、肝细胞癌和胰腺导管内乳头状黏液性肿瘤（胰腺腺癌的前体）等肿瘤中都检测到GNAS突变。

GNAS gene encodes the stimulatory G-alpha subunit of the heterotrimeric guanine nucleotide-binding protein (G-protein) membrane complex. Activation of G-protein signaling by an agonist-stimulated G-coupled protein receptor (GPCR) activates signal transduction cascades, which regulate cellular growth and development. Activating mutations in GNAS that have been linked to the endocrine hyperplasia of McCune-Albright syndrome have also been found in growth-hormone-secreting pituitary tumors. Point mutations in the GNAS gene, many of which involve the residues R201 and Q227, can lead to constitutive signaling activity, resulting in cellular proliferation and oncogenesis. Tumor types that have been found to harbor GNAS mutations include colon, parathyroid, and ovarian cancers, hepatocellular carcinoma, and pancreatic intraductal papillary mucinous neoplasms (precursors of pancreatic adenocarcinoma).

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