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Several hepatocellular carcinomas along with a few cases of colorectal, pancreatic and ovarian cancers displayed moderate cytoplasmic immunoreactivity. Remaining malignant cells were weakly stained or negative.
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0035023 [regulation of Rho protein signal transduction] GO:0043547 [positive regulation of GTPase activity]
GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0035023 [regulation of Rho protein signal transduction] GO:0043547 [positive regulation of GTPase activity]