Oligophrenin-1
Function
Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity).
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Billuart type
MRXSBL
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSBL patients manifest intellectual disability associated with cerebellar hypoplasia and distinctive facial dysmorphism.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in brain.
Cellular localization
- Postsynapse
- Presynapse
- Cell projection
- Axon
- Cell projection
- Dendritic spine
- Cell projection
- Dendrite
- Cytoplasm
Alternative names
Oligophrenin-1, OPHN1