BRAF Recombinant Protein

This gene encodes 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. [provided by RefSeq, Jul 2008]

BRAF: a tyrosine kinase-like kinase of the RAF family. Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Frequently mutated in thyroid cancers, skin melanomas and at lower frequency in a wide range of human cancers. An activating mutation, mimicking phosphorylation of the activation loop, is seen in 60% of malignant melanoma samples. Raf mutations are generally exclusive to Ras activating mutations. Activating mutations are also seen in ~10% of colorectal cancers, in lung cancers and gliomas, and at a lower rate in several other tumors. Inactivating mutations are also seen and may result in activation of c-Raf and Erk. Mutations in B-Raf, MEK1 and MEK2 also associated with cardiofaciocutaneous syndrome, displaying morphological, cardiac and mental defects. Approved Inhibitor: Nexavar/Sorafenib.

Protein type: EC 2.7.11.1; Kinase, protein; Oncoprotein; Protein kinase, Ser/Thr (non-receptor); Protein kinase, TKL; RAF family; TKL group

Chromosomal Location of Human Ortholog: 7q34

Cellular Component: cytosol; intracellular; intracellular membrane-bound organelle; plasma membrane

Molecular Function: calcium ion binding; identical protein binding; MAP kinase kinase kinase activity; mitogen-activated protein kinase kinase binding; protein binding; protein kinase activity; protein serine/threonine kinase activity; small GTPase binding

Biological Process: cell differentiation; glucose transport; MAPKKK cascade; negative regulation of apoptosis; negative regulation of signal transduction; organ morphogenesis; positive regulation of peptidyl-serine phosphorylation; protein amino acid phosphorylation

Disease: Cardiofaciocutaneous Syndrome 1; Leopard Syndrome 3; Lung Cancer; Noonan Syndrome 1; Noonan Syndrome 7