Gene Protein Transcript Blast result Transcript specific probe-cluster
Gene information for OPHN1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4983
Official gene symbolOPHN1
Full nameoligophrenin 1
Gene summaryThis 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]
LocationChromosome: X   Locus: 
Gene position67653299 - 67262186  Map Viewer
OMIM ID300127