OPHN1

Description

The OPHN1 (oligophrenin 1) is a protein-coding gene located on chromosome X.

Oligophrenin-1 is a protein encoded by the OPHN1 gene in humans. It acts as a Rho GTPase-activating protein (GAP), regulating the activity of Rho proteins involved in cell signaling, migration, and morphogenesis. Recent research highlights its role in the medial prefrontal cortex, particularly in response to stress and learned helplessness. Mutations in OPHN1 are linked to non-specific X-linked intellectual disability and OPHN1 syndrome, a rare disorder characterized by intellectual disability, developmental delay, seizures, and distinctive facial features. The syndrome primarily affects males.

Oligophrenin-1 acts as a GTPase-activating protein (GAP) for Rho GTPases, specifically RHOA. This interaction regulates the activity and signaling of RHOA, which is crucial for the growth and stabilization of dendritic spines, thereby influencing synaptic function. OPHN1 also plays a critical role in stabilizing AMPA receptors at postsynaptic sites and regulating synaptic vesicle endocytosis at presynaptic terminals. Furthermore, OPHN1 facilitates the localization of NR1D1 to dendrites, suppressing its repressor activity and protecting it from degradation.

OPHN1 is also known as ARHGAP41, MRX60, MRXSBL, OPN1.

Associated Diseases

• X-linked intellectual disability-cerebellar hypoplasia syndrome
• Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance