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Results for "OPHN1": 1 gene, 2 gene sets

Name

OPHN1 Gene

oligophrenin 1

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]

ophn1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ophn1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

OPHN1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for OPHN1 from the Pathway Commons Protein-Protein Interactions dataset.