LP71409-4
BRAF gene
Active
Description
The BRAF gene (B-Raf proto-oncogene, serine/threonine kinase) [HGNC Gene ID:1097] is located on chromosome 7q34. 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] [NCBI Gene ID:673] Loss of the BRAF gene can be determined by various techniques, and loss of the protein, which is an indicator of gene mutation or deletion, can be detected by immunohistochemistry techniques. Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- BRAF gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- BRAF gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BRAF 基因 Synonyms: B-Raf; |
| et-EE | Estonian (Estonia) | BRAF geen |
| es-ES | Spanish (Spain) | Gen BRAF |
| it-IT | Italian (Italy) | BRAF, gene Synonyms: Gene BRAF |
| tr-TR | Turkish (Turkey) | BRAF geni |
| ru-RU | Russian (Russian Federation) | BRAF ген |
| nl-NL | Dutch (Netherlands) | BRAF-gen Synonyms: BRAF gen |
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