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BRAF / B-Raf is a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene.
Gene Name: | v-raf murine sarcoma viral oncogene homolog B |
Family/Subfamily: | Protein Kinase , Raf |
Synonyms: | BRAF, 94 kDa B-raf protein, B-raf, BRAF1, B Raf, Proto-oncogene B-Raf, p94, B-RAF1, NS7, ONCOGENE BRAF, RAFB1 |
Target Sequences: | NM_004333 NP_004324.2 P15056 |
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