Recombinant Human Oligophrenin-1 (OPHN1), Truncated

Uniprot Id

O60890

Target Species

Human

Target Name

OPHN1

Target Full Name

Oligophrenin-1

Target 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.

Target Involvement

Mental retardation, X-linked, syndromic, OPHN1-related (MRXSO)

Target Subcellular Location

Cell junction, synapse, postsynapse. Cell junction, synapse, presynapse. Cell projection, axon. Cell projection, dendritic spine. Cell projection, dendrite. Cytoplasm.

Target Tissue Specificity

Expressed in brain.

Target Synonyms

OPHN1; Oligophrenin-1

Target Background

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism.