B-raf belongs 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 the 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.
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Protein Aliases: 94 kDa B-raf protein; B-Raf proto-oncogene serine/threonine-protein kinase (p94); FLJ95109; MGC126806; murine sarcoma viral (v-raf) oncogene homolog B1; p94; Proto-oncogene B-Raf; Serine/threonine-protein kinase B-raf; v-raf murine sarcoma viral oncogene homolog B; v-Raf murine sarcoma viral oncogene homolog B1
Gene Aliases: B-raf; B-RAF1; BRAF; BRAF1; NS7; RAFB1
UniProt ID: (Human) P15056
Entrez Gene ID: (Human) 673