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OPHN1

Official Full Name
oligophrenin 1
Organism
Homo sapiens
GeneID
4983
Background
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]
Synonyms
OPN1; MRX60; MRXSBL; ARHGAP41;

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