OPHN1

Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.

Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked intellectual disability (previously called mental retardation), particularly. in association with hypoplastic cerebellar features and commonly congenital strabismus

In 2014 www.OPHN1.org was formed as a patient advocacy and disease community group.