OPHN1 Human Recombinant Protein

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 mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

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.

Protein type: Motility/polarity/chemotaxis; GAPs, Rac/Rho; GAPs

Chromosomal Location of Human Ortholog: Xq12

Cellular Component: dendritic spine; terminal button; cell junction; cytosol; actin cytoskeleton

Molecular Function: ionotropic glutamate receptor binding; phospholipid binding; actin binding

Biological Process: nervous system development; axon guidance; regulation of small GTPase mediated signal transduction; regulation of synaptic transmission, glutamatergic; small GTPase mediated signal transduction; synaptic vesicle endocytosis; regulation of endocytosis; actin cytoskeleton organization and biogenesis; signal transduction; substrate-bound cell migration, cell extension

Disease: Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance