GNB1

—Template:Cs1 config Template:Short description Template:Infobox gene Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 is a protein that in humans is encoded by the GNB1 gene.

Function

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene uses alternative polyadenylation signals.

Interactions

GNB1 has been shown to interact with GNG4.

Mutations

Mutations in the GNB1 gene can cause developmental delays, seizures, and other health problems. The GNB1 Advocacy Group is the primary organization in the United States connecting patients to each other and to researchers working to cure the effects of these mutations.

www.facebook.com/groups/gnb1advocacy/

https://www.gnb1.org/

https://www.ncbi.nlm.nih.gov/books/NBK554743/

External links

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