Gene Symbol | BRAF |
Entrez Gene ID | 673 |
Full Name | B-Raf proto-oncogene, serine/threonine kinase |
Synonyms | B-RAF1,B-raf,BRAF1,NS7,RAFB1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Melanoma, malignant, somatic (3); Colorectal cancer, somatic (3); Adenocarcinoma of lung, somatic, 211980 (3); Nonsmall cell lung cancer, somatic (3); Cardiofaciocutaneous syndrome, 115150 (3); Noonan syndrome 7, 613706 (3); LEOPARD syndrome 3, 613707 (3) |