Gphn - gephyrin

Predicted to enable several functions, including molybdopterin adenylyltransferase activity; molybdopterin cofactor binding activity; and molybdopterin molybdotransferase activity. Involved in neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process; postsynaptic neurotransmitter receptor diffusion trapping; and synapse organization. Located in several cellular components, including inhibitory synapse; neuronal cell body; and postsynaptic specialization. Is anchored component of synaptic membrane. Is active in GABA-ergic synapse. Is expressed in several structures, including central nervous system and retina. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin). [provided by Alliance of Genome Resources, Apr 2022]