2024年12月25日 · GNAQ (G Protein Subunit Alpha Q) is a Protein Coding gene. Diseases associated with GNAQ include Sturge-Weber Syndrome and Capillary Malformations, Congenital. Among its related pathways are Thromboxane signalling through TP receptor and Development Angiotensin activation of ERK.

Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GDP for GTP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex.

The GNAQ gene provides instructions for making a protein called guanine nucleotide-binding protein G (q) subunit alpha (Gαq). The Gαq protein is part of a group of proteins called the trimeric G protein complex. This complex attaches (binds) …

该基因座编码鸟嘌呤核苷酸结合蛋白。 编码的蛋白质是 Gq 类中的一个 alpha 亚基，将一个七跨膜结构域受体与磷脂酶 C-beta 的激活结合起来。 该位点的突变与血小板活化和聚集的问题有关。 2 号染色体上存在一个相关的假基因。 [RefSeq 提供，2010 年 11 月] This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta.

GNAQ and GNA11 genes encode protein members of the q class of G-protein alpha subunits involved in mediating signals between G-protein coupled receptors (GPCRs) and downstream effectors . Both genes have mainly been considered as driver genes in carcinogenesis, as they lead to constitutive activation of GPCR signalling.

Gene ID: 2776, updated on 8-Feb-2025. This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation.

2024年11月9日 · 近日，首都医科大学宣武医院神经外科洪韬、张鸿祺教授团队，在人类遗传学研究知名期刊《The American Journal of Human Genetics》杂志上发表了题为 “GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial...

2024年9月3日 · GNAQ（Guanine Nucleotide-Binding Protein, Q Polypeptide）是G蛋白家族中的一员，作为Gq蛋白的α亚基，GNAQ 在细胞内信号传导中发挥着重要作用。 GNAQ蛋白由约359个氨基酸组成，其结构可以分为多个关键功能域，每个功能域

GNAQ. 基因产物：鸟嘌呤核苷酸结合蛋白q多肽。 蛋白功能：属于鸟嘌呤核苷酸结合蛋白（g蛋白）中的一个亚单位，g蛋白是多种跨膜信号系统中的重要的调节或传导蛋白。 相关疾病：先天性毛细血管畸形[1]； Sturge-Weber 综合征 [2]。 突变数据库：ClinVar数据库。

Expression of G protein αq Subunit is Decreased in Lymphocytes from Patients with Rheumatoid Arthritis and is Correlated with Disease Activity. 这个基因座编码一个鸟嘌呤核苷酸结合蛋白。 编码的蛋白质是Gq类的α亚单位，将一个七跨膜域受体与磷酸脂酶C-β的激活相结合。 这个基因座的突变与血小板激活和聚集问题有关。 在染色体2上有一个相关的假基因。 [由RefSeq，2010年11月 …