BRAF (gene)

BRAF Gene and B-Raf Protein

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

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

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

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

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

External Links

• National Cancer Institute - BRAF in Cancer
• U.S. National Library of Medicine - BRAF gene

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