GABRB1


Description

The GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1) is a protein-coding gene located on chromosome 4.

The GABRB1 gene, located on chromosome 4p12, produces the gamma-aminobutyric acid (GABA) receptor subunit beta-1 protein. This protein is a key component of the GABA(A) receptor, a multi-subunit chloride channel that mediates rapid inhibition within the central nervous system. This receptor's function is critical for regulating neuronal activity, and alterations in the GABRB1 gene have been linked to schizophrenia. Studies on mice with mutant copies of this gene have shown increased vulnerability to alcohol abuse.

The GABRB1 gene encodes a protein subunit of the GABA(A) receptor, a crucial component of the nervous system's inhibitory signaling. This receptor, a complex of five protein subunits, binds GABA, the primary inhibitory neurotransmitter in the brain, leading to chloride ion influx. This influx reduces neuronal excitability, effectively dampening nerve transmission. The GABRB1 subunit plays a vital role in this process, contributing to the receptor's structure and function. Additionally, the GABRB1 subunit can bind histamine, influencing sleep and wakefulness. Furthermore, it acts as a binding site for diazepines and anesthetics, such as pentobarbital, modulating their effects on the nervous system.

GABRB1 is also known as DEE45, EIEE45.

Associated Diseases


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