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OPHN1 encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Additionally we are shipping Oligophrenin 1 Antibodies (24) and Oligophrenin 1 Kits (3) and many more products for this protein.
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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.
mental retardation, X-linked 60
, oligophrenin-1, Rho-GTPase activating protein
, oligophrenin 1