BRAF (gene)

BRAF Gene and B-Raf Protein[edit | edit source]

DNA sequencing, a method used to study genetic mutations like those in the BRAF gene.

The BRAF gene is a human gene responsible for encoding the B-Raf protein, an enzyme involved in intracellular signaling. It plays a key role in cell growth and development and has been linked to various cancers and some birth defects.

Gene and Protein Overview[edit | edit source]

BRAF, also known as proto-oncogene B-Raf and v-Raf murine sarcoma viral oncogene homolog B, encodes the serine/threonine-protein kinase B-Raf protein. This protein is a part of the RAF/MAP kinase signaling cascade, a pathway critical for cell division and differentiation.

Role in Cell Signaling[edit | edit source]

Illustration of a cell signaling pathway, including the RAF/MAP kinase cascade.

B-Raf is a key player in the MAPK/ERK signaling pathway, which regulates cell growth and division. Alterations in this pathway can lead to uncontrolled cell proliferation.

Significance in Cancer[edit | edit source]

In 2002, mutations in the BRAF gene were discovered to be involved in various human cancers, including melanoma, colorectal cancer, and others. These mutations lead to an overactive B-Raf protein, contributing to cancer development.

Mutations and Birth Defects[edit | edit source]

Certain inherited mutations of the BRAF gene are implicated in congenital disorders. These mutations can disrupt normal development, leading to birth defects.

External Links[edit | edit source]

BRAF (gene) Resources
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