GABRR13

GABRR13, also known as gamma-aminobutyric acid receptor rho-13, is a gene that encodes a subunit of the gamma-aminobutyric acid (GABA) receptor family. GABA is the primary inhibitory neurotransmitter in the central nervous system, playing a critical role in regulating neuronal excitability, promoting relaxation, and reducing anxiety. The GABRR13 gene is located on chromosome 4 at position 4q31.3 and belongs to the rho subunit class of GABA receptors, which are distinct from the more common alpha, beta, and gamma subunits found in the majority of GABA_A receptors.

The protein encoded by GABRR13 is a transmembrane receptor that forms a pentameric ion channel. Unlike other GABA_A receptor subunits, rho subunits can assemble into functional receptors on their own, without requiring the presence of other subunits. These receptors are primarily expressed in the retina, where they contribute to the regulation of visual signal processing. Specifically, they are involved in the inhibitory synaptic transmission between photoreceptors and bipolar cells, helping to modulate light detection and signal transmission.

Mutations in the GABRR13 gene have been associated with certain retinal disorders, including autosomal dominant congenital stationary night blindness (CSNB), a group of conditions characterized by impaired night vision and other visual deficits. These mutations can disrupt the normal function of the receptor, leading to reduced inhibitory signaling in retinal neurons and contributing to the symptoms observed in affected individuals. Research into GABRR13 continues to explore its role in retinal physiology and potential therapeutic targets for related disorders.