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A novel missense GNB4 variant causes Charcot-Marie-Tooth disease F in two patients, who represent the first record of the disease in the Japanese population.
Suggest Gbeta4gamma1 as a modulator of M3 muscarinic receptor (show CHRM3 Proteins) signaling.
Analysis of GNB4 in an additional 88 unrelated CMT individuals uncovered another de novo mutation.
Gbeta4 subunit is coexpressed in physiologically ON-type cone bipolar cells with Ggamma13 (show GNg13 Proteins) and Gbeta3 but is not present in OFF-type bipolar cells.
Gbeta4 is widely expressed, located on chromosome 3 with a genomic structure like Gbeta1 to Gbeta3, but different from Gbeta5 (show GNB5 Proteins)
Intron-1 haplotypes of GNB4 may, thus, serve as predictive markers for progression and survival of patients suffering from bladder cancer.
Intron-1 haplotypes of GNB4 is associated with colorectal carcinoma.
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.
guanine nucleotide binding protein, beta 4
, guanine nucleotide-binding protein subunit beta-4
, transducin beta chain 4
, G protein beta-4 subunit
, G-protein beta 4 subunit
, guanine nucleotide binding protein (G protein), beta 4
, guanine nucleotide binding protein beta 4 subunit