| Oligophrenin-1 ELISA Kit|
|OPHN1: 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. Defects in OPHN1 are the cause of ment |
al retardation X- linked OPHN1-related (MRXSO); formerly designated MRX60. MRXSO is a syndromic mental retardation. Patients present mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism.
Protein type: GAPs; GAPs, Rac/Rho; Motility/polarity/chemotaxis
Cellular Component: actin cytoskeleton; cytoplasm; dendrite; dendritic spine; terminal button
Molecular Function: actin binding; GTPase activator activity; ionotropic glutamate receptor binding; phospholipid binding; protein binding
Biological Process: actin cytoskeleton organization and biogenesis; regulation of endocytosis; regulation of synaptic transmission, glutamatergic; synaptic vesicle endocytosis
| Ophn1 ELISA Kit|