Ophn1 - oligophrenin 1

Enables GTPase activator activity and actin binding activity. Involved in negative regulation of proteasomal protein catabolic process. Acts upstream of or within several processes, including regulation of endocytosis; regulation of glutamatergic synaptic transmission; and synaptic vesicle endocytosis. Located in several cellular components, including actin cytoskeleton; dendritic spine; and terminal bouton. Is expressed in several structures, including central nervous system; lung; metanephros; retina; and thymus. Used to study syndromic intellectual disability. Human ortholog(s) of this gene implicated in X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance. Orthologous to human OPHN1 (oligophrenin 1). [provided by Alliance of Genome Resources, Apr 2022]