GNG3

Description

The GNG3 (G protein subunit gamma 3) is a protein-coding gene located on chromosome 11.

The GNG3 gene in humans encodes the gamma-3 subunit of guanine nucleotide-binding protein G(I)/G(S)/G(O). G proteins are heterotrimeric complexes consisting of alpha, beta, and gamma subunits.

G proteins play a crucial role in transmembrane signaling by acting as modulators or transducers. The beta and gamma subunits are essential for the GTPase activity, facilitating the replacement of GDP with GTP and mediating interactions between G proteins and their effectors.

GNG3 is also known as HG3D.

Associated Diseases

• urinary bladder cancer
• autosomal dominant epilepsy with auditory features
• developmental and epileptic encephalopathy, 9
• generalized epilepsy with febrile seizures plus, type 2
• benign familial infantile epilepsy
• developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
• juvenile myoclonic epilepsy
• febrile seizures, familial, 1
• generalized epilepsy with febrile seizures plus, type 7
• Dravet syndrome