GNB1
Description
The GNB1 (G protein subunit beta 1) is a protein-coding gene located on chromosome 1.
GNB1, the gene encoding the beta-1 subunit of G proteins, plays a critical role in cellular signaling. G proteins, composed of alpha, beta, and gamma subunits, act as signal integrators, relaying information between receptors and effector proteins. The beta subunit, encoded by GNB1, is essential for regulating alpha subunits and influencing signal transduction receptors and effectors. GNB1 utilizes alternative polyadenylation signals. Mutations in GNB1 can lead to developmental delays, seizures, and other health problems. The GNB1 Advocacy Group connects patients and researchers working to understand and address these effects.
GNB1 is also known as HG2A, MDS, MRD42.
Associated Diseases
- Leukemia, acute lymphocytic, susceptibility to, 1
- Myelodysplastic syndrome
- Mental retardation, autosomal dominant 42
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
