Enables molybdopterin molybdotransferase activity. Involved in molybdopterin cofactor biosynthetic process and neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process and synapse organization. Located in several cellular components, including inhibitory synapse; postsynaptic density; and synaptic membrane. Is active in GABA-ergic synapse and postsynaptic specialization, intracellular component. 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).
MGI Description
PHENOTYPE: Mice homozygous for disruption of this gene die within one day of birth, apparently due to an inability to suckle. Apnea also develops within 12 hours of birth. [provided by MGI curators]