Reviewed April 2008
What is the official name of the TGFB1 gene?
The official name of this gene is “transforming growth factor, beta 1.”
TGFB1 is the gene's official symbol. The TGFB1 gene is also known by other names, listed below.
What is the normal function of the TGFB1 gene?
The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1). The TGFβ-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGFβ-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGFβ-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, this protein is turned off (inactive) until it receives a chemical signal to become active.
How are changes in the TGFB1 gene related to health conditions?
- Camurati-Engelmann disease - caused by mutations in the TGFB1 gene
Approximately 10 mutations in the TGFB1 gene have been found to cause Camurati-Engelmann disease. Most of the mutations change one protein building block (amino acid) in the TGFβ-1 protein. The most common mutation replaces the amino acid arginine with the amino acid cysteine at position 218 in the TGFβ-1 protein (written as Arg218Cys or R218C).
All mutations that cause Camurati-Engelmann disease result in a TGFβ-1 protein that is always turned on (active). The overactive protein likely disrupts the regulation of bone growth and impairs muscle and body fat development. A disruption in the regulation of TGFβ-1 activity can lead to increased bone density and other features of Camurati-Engelmann disease.
- cancers - associated with the TGFB1 gene
Some TGFB1 gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are called somatic mutations and are not inherited. Somatic mutations in the TGFB1 gene that cause alterations in the activity (expression) of the TGFβ-1 protein are associated with certain cancers. The altered protein expression may enhance several cancer-related events such as cell division (proliferation), cell motility, and the development of new blood vessels (angiogenesis) that nourish a growing tumor. The TGFβ-1 protein is abnormally active (overexpressed) in certain types of prostate cancers. Altered TGFβ-1 expression has also been found in breast, colon, lung, and bladder cancers.
A variation (polymorphism) in the TGFB1 gene that changes a single amino acid in the TGFβ-1 protein is associated with prostate cancer. In people with this polymorphism, the amino acid leucine is replaced with the amino acid proline at position 10 in the TGFβ-1 protein. Although it has no apparent effect in healthy people or those with a condition caused by a different mutation in the TGFB1 gene, this polymorphism is associated with accelerated disease progression and a poorer outcome in patients with prostate cancer.
Where is the TGFB1 gene located?
Cytogenetic Location: 19q13.1
Molecular Location on chromosome 19: base pairs 41,836,811 to 41,859,830
The TGFB1 gene is located on the long (q) arm of chromosome 19 at position 13.1.
More precisely, the TGFB1 gene is located from base pair 41,836,811 to base pair 41,859,830 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about TGFB1?
You and your healthcare professional may find the following resources about TGFB1 helpful.
Educational resources - Information pages
- Cancer Medicine (sixth edition, 2003): Transforming Growth Factor-β (TGF-β) (http://www.ncbi.nlm.nih.gov/books/NBK12565/)
- Eurekah Bioscience Collection: TGFβ Signaling (http://www.ncbi.nlm.nih.gov/books/NBK6525/)
- Molecular Cell Biology (fourth edition, 2000): TGFβ signaling pathway (http://www.ncbi.nlm.nih.gov/books/NBK21715/?rendertype=figure&id=A6758)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1156/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for TGFB1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7040%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((TGFB1%5BTIAB%5D)%20OR%20(TGF%20beta-1%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/190180)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_TGFB1.html)
- Cancer Genetics Web (http://www.cancerindex.org/geneweb/TGFB1.htm)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7040)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7040)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11766)
What other names do people use for the TGFB1 gene or gene products?
- diaphyseal dysplasia 1, progressive
- TGF-beta 1 protein
- transforming growth factor beta 1
- transforming growth factor-beta 1
- transforming growth factor, beta 1 (Camurati-Engelmann disease)
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding TGFB1?
amino acid ;
bone density ;
cell division ;
extracellular matrix ;
growth factor ;
immune system ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Basic Neurochemistry (sixth edition, 1999): Transforming growth factors β are the prototypical members of a superfamily of related factors which have diverse roles both in development and in the mature animal (http://www.ncbi.nlm.nih.gov/books/NBK28185/)
- Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. Hum Genet. 2001 Dec;109(6):653-8. Epub 2001 Nov 9. (http://www.ncbi.nlm.nih.gov/pubmed/11810278?dopt=Abstract)
- Derynck R, Akhurst RJ, Balmain A. TGF-beta signaling in tumor suppression and cancer progression. Nat Genet. 2001 Oct;29(2):117-29. Review. Erratum in: Nat Genet 2001 Nov;29(3):351. (http://www.ncbi.nlm.nih.gov/pubmed/11586292?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7040)
- Eurekah Bioscience Collection: Transforming Growth Factor-β (http://www.ncbi.nlm.nih.gov/books/NBK6579/)
- Faria PC, Saba K, Neves AF, Cordeiro ER, Marangoni K, Freitas DG, Goulart LR. Transforming growth factor-beta 1 gene polymorphisms and expression in the blood of prostate cancer patients. Cancer Invest. 2007 Dec;25(8):726-32. (http://www.ncbi.nlm.nih.gov/pubmed/18058470?dopt=Abstract)
- Jakowlew SB. Transforming growth factor-beta in cancer and metastasis. Cancer Metastasis Rev. 2006 Sep;25(3):435-57. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16951986?dopt=Abstract)
- Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W. Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem. 2003 Feb 28;278(9):7718-24. Epub 2002 Dec 18. (http://www.ncbi.nlm.nih.gov/pubmed/12493741?dopt=Abstract)
- Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Gua˝abens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melanšon S, Cundy T, Van Hul W. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006 Jan;43(1):1-11. Epub 2005 May 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15894597?dopt=Abstract)
- OMIM: TRANSFORMING GROWTH FACTOR, BETA-1 (http://omim.org/entry/190180)
- Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A. 2004 Sep 1;129A(3):235-47. (http://www.ncbi.nlm.nih.gov/pubmed/15326622?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.