Aliases for OPHN1 Gene
External Ids for OPHN1 Gene
Previous HGNC Symbols for OPHN1 Gene
Previous GeneCards Identifiers for OPHN1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for OPHN1 Gene
OPHN1 (Oligophrenin 1) is a Protein Coding gene. Diseases associated with OPHN1 include Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance and Cerebellar Hypoplasia. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include actin binding and phospholipid binding. An important paralog of this gene is ARHGAP42.
UniProtKB/Swiss-Prot for OPHN1 Gene
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).