背景
This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases.
This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects
cell division, differentiation, and secretion. Mutations in this gene, most commonly the
V600E mutation, are the most frequently identified cancer-causing mutations in melanoma,
and have been identified in various other cancers as well, including non-Hodgkin lymphoma,
colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and
adenocarcinoma of lung. Mutations in this gene are also associated with
cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping
phenotypes. A pseudogene of this gene has been identified on the X chromosome.
