背景
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 repalmitoylation, 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.
