Mutations in OPHN1 are associated with intellectual disability. Oligophrenin 1 a Rho-GTPase-activating protein, which serves to negatively regulate the Rho signaling pathway in neurons. The Rho pathway is an important mediator of intracellular signal transduction, which affects neuron cell migration and cell morphogenesis...
What is OPHN1 or OPHN1 Deficiency? OPHN1 is an X-linked gene encoding the Oligophrenin 1 protein. Mutations in OPHN1 are associated with intellectual disability. Oligophrenin 1 a Rho-GTPase-activating.....
Disruptions in the OPHN1 gene result in less or no oligophrenin-1 protein, which results in over-activation of the Rho pathway in neurons. For this reason, treatment of OPHN1 deficiency with Rho pathway inhibitors is an active area of research and a potential therapeutic strategy.