Function
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding.
Biological Context
Subcellular Location: Cell membrane (Peripheral membrane protein); Golgi apparatus; Nucleus; Nucleus membrane
Tissue Specificity: Predominantly expressed in ovary, prostate, testis and colon. Down-regulated in the peripheral blood lymphocytes (PBLs) of rheumatoid arthritis patients (at protein level)
Disease Association: Capillary malformations, congenital (CMC) : A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity. [The disease is caused by variants affecting the gene represented in this entry] | Sturge-Weber syndrome (SWS) : A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, intellectual disability, and recurrent stroke-like episodes. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Guanine nucleotide-binding protein G (q) subunit alpha (GNAQ) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-359aa, with N-terminal 6xHis-tagged tag, molecular weight 48.1kDa, purity Greater than 95% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
