Entrez gene ID | | 4983 |
Official gene symbol | | OPHN1 |
Full name | | oligophrenin 1 |
Aliases | | ,ARHGAP41,MRX60,OPN1, |
Gene summary | | 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] |
Location | | Chromosome: X Locus: Xq12 |
Gene position | | 67653299 - 67262186 Map Viewer |
Gene orientation | | minus |
Gene size | | 391114 bp |
Gene sequence |
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OMIM ID | | 300127 |
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