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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 mental 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. Note: This description may include information from UniProtKB.
Protein type: GAP; GAP, Rac/Rho; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: Xq12
Cellular Component: cytosol
Molecular Function: GTPase activator activity; phospholipid binding
Biological Process: axon guidance; nervous system development; regulation of small GTPase mediated signal transduction; substrate-bound cell migration, cell extension
Disease: Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
Reference #:  O60890 (UniProtKB)
Alt. Names/Synonyms: ARHGAP41; mental retardation, X-linked 60; MRX60; oligophrenin 1; Oligophrenin-1; oligophrenin-1, Rho-GTPase activating protein; OPHN1; OPN1
Gene Symbols: OPHN1
Molecular weight: 91,641 Da
Basal Isoelectric point: 8.08  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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