BRAF (gene): Difference between revisions

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== BRAF Gene and B-Raf Protein ==
{{DISPLAYTITLE:BRAF (gene)}}
{{Infobox gene
| name = BRAF
| image = Signal transduction pathways.svg
| caption = Signal transduction pathways involving BRAF
| HGNCid = 1097
| symbol = BRAF
| alt_symbols = BRAF1, RAFB1
| EntrezGene = 673
| OMIM = 164757
| RefSeq = NM_004333
| UniProt = P15056
| chromosome = 7
| arm = q
| band = 34
}}


[[File:T7 DNA polymerase and substrate.png|thumb|right|DNA sequencing, a method used to study genetic mutations like those in the BRAF gene.]]
'''BRAF''' is a gene that encodes a protein called B-Raf, which is a member of the Raf kinase family of growth signal transduction protein kinases. B-Raf is involved in sending signals inside cells, which are involved in directing cell growth. Mutations in this gene have been associated with various forms of cancer, including melanoma, colorectal cancer, and thyroid cancer.


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.
==Function==
B-Raf is a serine/threonine protein kinase that plays a role in the [[MAPK/ERK pathway]], which is a chain of proteins in the cell that communicates a signal from a receptor on the surface of the cell to the DNA in the nucleus. The MAPK/ERK pathway is involved in the regulation of meiosis, mitosis, and postmitotic functions in differentiated cells. B-Raf is activated by binding to [[Ras (protein)|Ras]], which is a small GTPase, and subsequently phosphorylates and activates [[MEK1]] and [[MEK2]], which in turn activate [[ERK1]] and [[ERK2]].


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==Clinical significance==
title='''{{PAGENAME}}'''
Mutations in the BRAF gene are implicated in a variety of cancers. The most common mutation, V600E, results in a valine to glutamic acid substitution at position 600, which leads to constitutive activation of the B-Raf protein. This mutation is found in approximately 50% of melanomas and is also present in other cancers such as colorectal cancer and papillary thyroid carcinoma.
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&rel=1
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== Gene and Protein Overview ==
[[File:BRAF Kinase Inactive.png|thumb|Inactive form of BRAF kinase]]
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 ==
Targeted therapies have been developed to inhibit the activity of mutant B-Raf proteins. One such drug is [[vemurafenib]], which specifically targets the V600E mutation. Another drug, [[sorafenib]], is a multi-kinase inhibitor that targets B-Raf among other kinases.


[[File:Wnt signaling pathway.png|thumb|Illustration of a cell signaling pathway, including the RAF/MAP kinase cascade.]]
[[File:Sorafenib BRAF Labeled.png|thumb|Sorafenib binding to BRAF]]


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.
==Research and developments==
Research continues to explore the role of BRAF mutations in cancer and the development of new therapeutic strategies. Combination therapies that target multiple pathways are being investigated to overcome resistance to BRAF inhibitors.


== Significance in Cancer ==
==Also see==
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.
* [[MAPK/ERK pathway]]
* [[Ras (protein)]]
* [[Vemurafenib]]
* [[Sorafenib]]
* [[Melanoma]]
* [[Colorectal cancer]]
* [[Thyroid cancer]]


== Mutations and Birth Defects ==
==References==
Certain inherited mutations of the BRAF gene are implicated in congenital disorders. These mutations can disrupt normal development, leading to birth defects.
{{Reflist}}


== External Links ==
[[Category:Genes on human chromosome 7]]
* [https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet National Cancer Institute - BRAF in Cancer]
[[Category:Oncogenes]]
* [https://ghr.nlm.nih.gov/gene/BRAF U.S. National Library of Medicine - BRAF gene]
[[Category:Signal transduction]]
 
[[Category:Genetics]]
[[Category:Oncology]]
[[Category:Molecular Biology]]
 
{{stub}}

Latest revision as of 02:59, 11 December 2024


BRAF
Symbol BRAF
HGNC ID 1097
Alternative symbols –
Entrez Gene 673
OMIM 164757
RefSeq NM_004333
UniProt P15056
Chromosome 7q34
Locus supplementary data –


BRAF is a gene that encodes a protein called B-Raf, which is a member of the Raf kinase family of growth signal transduction protein kinases. B-Raf is involved in sending signals inside cells, which are involved in directing cell growth. Mutations in this gene have been associated with various forms of cancer, including melanoma, colorectal cancer, and thyroid cancer.

Function[edit]

B-Raf is a serine/threonine protein kinase that plays a role in the MAPK/ERK pathway, which is a chain of proteins in the cell that communicates a signal from a receptor on the surface of the cell to the DNA in the nucleus. The MAPK/ERK pathway is involved in the regulation of meiosis, mitosis, and postmitotic functions in differentiated cells. B-Raf is activated by binding to Ras, which is a small GTPase, and subsequently phosphorylates and activates MEK1 and MEK2, which in turn activate ERK1 and ERK2.

Clinical significance[edit]

Mutations in the BRAF gene are implicated in a variety of cancers. The most common mutation, V600E, results in a valine to glutamic acid substitution at position 600, which leads to constitutive activation of the B-Raf protein. This mutation is found in approximately 50% of melanomas and is also present in other cancers such as colorectal cancer and papillary thyroid carcinoma.

Inactive form of BRAF kinase

Targeted therapies have been developed to inhibit the activity of mutant B-Raf proteins. One such drug is vemurafenib, which specifically targets the V600E mutation. Another drug, sorafenib, is a multi-kinase inhibitor that targets B-Raf among other kinases.

Sorafenib binding to BRAF

Research and developments[edit]

Research continues to explore the role of BRAF mutations in cancer and the development of new therapeutic strategies. Combination therapies that target multiple pathways are being investigated to overcome resistance to BRAF inhibitors.

Also see[edit]

References[edit]

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