GNB1 Human

Guanine Nucleotide Binding Protein Beta Polypeptide 1 (GNB1) is a crucial component of the heterotrimeric G proteins, which play a significant role in transmembrane signaling systems. These proteins are involved in various cellular processes, including signal transduction, cell communication, and regulation of metabolic pathways.

GNB1 is one of the beta subunits of G proteins, which are composed of three subunits: alpha, beta, and gamma. The beta subunits, including GNB1, are essential for the regulation of the alpha subunits and certain signal transduction receptors and effectors . The beta and gamma chains are required for the GTPase activity, the replacement of GDP by GTP, and the interaction with G protein effectors .

The GNB1 gene is located on chromosome 1 in humans and encodes the G protein subunit beta-1 . This gene is involved in various pathways, including ADORA2B mediated anti-inflammatory cytokines production and thromboxane signaling through the TP receptor . Alternative splicing of this gene results in multiple transcript variants .

Mutations in the GNB1 gene have been associated with several disorders, including Intellectual Developmental Disorder, Autosomal Dominant 42, and Myelodysplastic Syndrome . These mutations can lead to developmental delays, seizures, and other health problems .

Human recombinant GNB1 is used in various research applications to study its role in signal transduction and its involvement in different diseases. Understanding the function and regulation of GNB1 can provide insights into the development of therapeutic strategies for related disorders.