GPHN

GPHN is the gene encoding gephyrin, a cytosolic scaffolding protein essential for the organization of inhibitory synapses in the central nervous system. In neurons, gephyrin anchors GABA_A receptors and glycine receptors at postsynaptic membranes, enabling efficient inhibitory neurotransmission. The protein interacts with multiple partners, including collybistin and tubulin, to assemble and stabilize receptor clusters during synapse formation and plasticity.

Gephyrin is expressed in many brain regions, with higher levels in areas rich in inhibitory synapses, and is also found in some non-neuronal tissues. The GPHN gene produces several transcript variants by alternative splicing, resulting in multiple gephyrin isoforms with distinct subcellular localizations and functions.

Genetic variation and alterations in GPHN have been studied in relation to neurodevelopmental and neuropsychiatric disorders, including epilepsy, autism spectrum disorders, and schizophrenia, but findings are inconclusive and require further research. Ongoing studies continue to explore how changes in gephyrin expression or function may influence inhibitory synaptic transmission and neural network activity.

See also: gephyrin, GABA_A receptors, glycine receptors, inhibitory synapses.