HRas proto-oncogene, GTPase

    Background:  

    This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of 

    mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction 

    pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein 

    undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the 

    plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease 

    characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition 

    to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance 

    and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder 

    cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode 

    different isoforms, have been identified for this gene.