GNAQGNA11

GNAQ and GNA11 are two closely related genes that encode for G alpha q and G alpha 11 proteins, respectively. These proteins are subunits of heterotrimeric G proteins, which are involved in transmitting signals from G protein-coupled receptors (GPCRs) to downstream effectors in cells. GNAQ and GNA11 share a high degree of sequence similarity and have overlapping functions in various signaling pathways.

GNAQ and GNA11 are widely expressed in different tissues and play crucial roles in various physiological processes, including cell proliferation, differentiation, and apoptosis. They are particularly important in the regulation of vascular tone, hemostasis, and inflammation. Mutations in GNAQ and GNA11 have been implicated in several diseases, including uveal melanoma, blue nevi, and Sturge-Weber syndrome.

Uveal melanoma is the most common primary intraocular tumor in adults, and activating mutations in GNAQ or GNA11 are found in nearly 80% of cases. These mutations lead to constitutive activation of the G alpha q/11 signaling pathway, promoting uncontrolled cell proliferation and tumor growth. Similarly, blue nevi, which are benign melanocytic tumors, also harbor GNAQ or GNA11 mutations. Sturge-Weber syndrome, a congenital neurocutaneous disorder characterized by facial port-wine stains and neurological abnormalities, has been linked to somatic mutations in GNAQ in affected tissues.

In summary, GNAQ and GNA11 are essential components of GPCR signaling pathways, and their dysregulation has been associated with various diseases. Understanding the functions and mechanisms of these genes is crucial for developing targeted therapies for related disorders.