FERM and PDZ domain-containing protein 4 (FRMPD4)

FERM and PDZ domain-containing protein 4 (FRMPD4) is a neural scaffolding protein encoded by the FRMPD4 gene. It is characterized by its modular structure, which includes WW, PDZ, and FERM domains, enabling interaction with key postsynaptic proteins such as PSD-95 and Homer. This scaffolding function is essential for the regulation of dendritic spine morphogenesis and density, maintenance of excitatory synaptic transmission, and the assembly of synaptic signaling complexes, particularly those involving metabotropic glutamate receptors. Mutations in FRMPD4 are associated with a novel X-linked intellectual disability syndrome, marked by cognitive impairment, language delay, seizures, and behavioral disturbances. Reduced FRMPD4 expression has also been observed in the brains of individuals with schizophrenia, suggesting a role in neuropsychiatric disorders. Despite its critical function in neuronal organization and synaptic function, FRMPD4 is not known to be the direct molecular target of any current therapeutic drugs

Other names

MRX104PDZK10PDZD10KIAA0316PresoPSD-95-interacting regulator of spine morphogenesisPSD-95-interacting FERM and PDZ domain proteinXLID104PDZ domain-containing protein 10