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Official Full Name: HRas proto-oncogene, GTPase
Also known as: CTLO; HAMSV; HRAS1; RASH1; p21ras; C-H-RAS; H-RASIDX; C-BAS/HAS; C-HA-RAS1
This gene belongs to the Ras oncogene family, members of which 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. The protein undergoes a continuous cycle of depalmitoylation and repalmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disorder characterized by accelerated growth in the prenatal phase and insufficient growth in the postnatal phase, predisposition to tumor formation, cognitive impairment, skin and musculoskeletal abnormalities, distinctive facial appearance, and cardiovascular abnormalities. Defects in this gene have been linked to a variety of cancers, including bladder cancer, follicular thyroid cancer and oral squamous cell carcinoma. Multiple transcript variants encoding different isoforms of this gene have been identified.
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