OPHN1, Official Symbol OPHN1provided by HGNC Official Full Name oligophrenin 1provided by HGNC Primary source HGNC:HGNC:8148 See related Ensembl:ENSG00000079482 MIM:300127; AllianceGenome:HGNC:8148 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OPN1; MRX60; MRXSBL; ARHGAP41 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 cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 5.5), prostate (RPKM 3.3) and 21 other tissues See more Orthologs mouse all