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- Table of Contents
Facts about Oligophrenin-1.
Stimulates GTP hydrolysis of All 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.Crucial for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals.
Human | |
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Gene Name: | OPHN1 |
Uniprot: | O60890 |
Entrez: | 4983 |
Belongs to: |
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No superfamily |
ARHGAP41; mental retardation, X-linked 60; MRX60; oligophrenin 1; oligophrenin-1; oligophrenin-1, Rho-GTPase activating protein; OPN1
Mass (kDA):
91.641 kDA
Human | |
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Location: | Xq12 |
Sequence: | X; |
Expressed in brain.
Cell junction, synapse, postsynapse. Cell junction, synapse, presynapse. Cell projection, axon. Cell projection, dendritic spine. Cell projection, dendrite. Cytoplasm.
PMID: 9582072 by Billuart P., et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
PMID: 10439959 by Tentler D., et al. Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.