B-Raf (V599E), active

Background Information:

B-RAF 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. GenBank NM_004333. The V599E mutation is thought to mimic phosphorylation of the native enzyme, resulting in a protein with high activity and leading to constitutive ERK activation. As B-Raf is commonly activated by somatic point mutation in human cancer, it may provide a new therapeutic approach to malignant melanoma. (Davies H., et al., Nature, 2002. 417: 949-54, and Mercer KE., & Pritchard CA., Biochim Biophys Acta. 2003. 1653: 25-40)

Target Class:

Kinase

Family:

TKL

Sub Family:

Protein Ser/Thr

Protein Name:

B-Raf

Protein Aliases:

Proto-oncogene B-Raf|p94|v-Raf murine sarcoma viral oncogene homolog B1

Accession Number:

NM_004333.3

UniProt Number:

P15056

Gene Name:

BRAF

Gene ID:

673

Gene Aliases:

BRAF1

Target Species:

Human