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BRAF B-Raf proto-oncogene, serine/threonine kinase

Also known as: NS7; BRAF1; RAFB1; B-RAF1

Summary

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]

Genomic context

Location:
7q34
Sequence:
Chromosome: 7; NC_000007.14 (140719334..140924764, complement)
Total number of exons:
20

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