Oligophrenin-1 (OPHN1)

Oligophrenin-1 (OPHN1) is a Rho GTPase-activating protein (Rho-GAP) encoded by the OPHN1 gene on the X chromosome[1][2][4][5]. It functions as a negative regulator of Rho GTPase signaling, notably repressing RhoA activity in neurons, and is essential for controlling the structure and functional plasticity of excitatory synapses[1][2][4]. OPHN1 plays a crucial role in actin cytoskeleton remodeling, synaptic formation and maintenance, and the maturation of dendritic spines by stabilizing AMPA receptor incorporation in the synaptic membrane[1][2]. Defects or loss-of-function mutations in the OPHN1 gene are associated with X-linked intellectual disability, cerebellar hypoplasia, and broader neurodevelopmental disorders such as autism and epilepsy, due to impaired synaptic development and plasticity[2][4][5][7]. There are currently no clinically established drugs targeting OPHN1, and it is not considered a classic pharmacological target such as a receptor, transporter, or enzyme in oncology or major therapeutic areas[5].

Other names

OPN1ARHGAP41MRX60MRXSBLRho-GTPase activating proteinoligophrenin-1