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Genetics Home Reference: your guide to understanding genetic conditions
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TGFBR1

Reviewed March 2012

What is the official name of the TGFBR1 gene?

The official name of this gene is “transforming growth factor, beta receptor 1.”

TGFBR1 is the gene's official symbol. The TGFBR1 gene is also known by other names, listed below.

What is the normal function of the TGFBR1 gene?

The TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. This receptor transmits signals from the cell surface into the cell through a process called signal transduction. Through this type of signaling, the environment outside the cell affects activities inside the cell such as stimulation of cell growth and division.

To carry out its signaling function, the TGF-β receptor type 1 spans the cell membrane, so that one end of the protein projects from the outer surface of the cell (the extracellular domain) and the other end remains inside the cell (the intracellular domain). A protein called TGF-β attaches (binds) to the extracellular domain of the TGF-β receptor type 1, which turns on (activates) the receptor and allows it to bind to a similar receptor on the cell surface. The formation of this TGF-β receptor complex triggers signal transduction by activating other proteins in this signaling pathway.

Signals triggered through the TGF-β receptor complex prompt various responses by the cell. One such response is to inhibit cell growth and division. Based on this action, the TGF-β receptor type 1 is sometimes called a tumor suppressor. Tumor suppressors keep cells from growing and dividing too fast or in an uncontrolled way. TGF-β receptor signaling also helps control the process by which cells mature to carry out special functions (differentiation), and plays a role in the formation of the extracellular matrix, which is an intricate lattice that forms in the spaces between cells and provides structural support to tissues.

How are changes in the TGFBR1 gene related to health conditions?

Loeys-Dietz syndrome - caused by mutations in the TGFBR1 gene

More than 30 mutations in the TGFBR1 gene have been found to cause Loeys-Dietz syndrome types I and II. Loeys-Dietz syndrome is a disorder that affects the connective tissue, which gives structure and support to blood vessels, the skeleton, and other parts of the body. Most of the TGFBR1 gene mutations that cause Loeys-Dietz syndrome change single protein building blocks (amino acids) in the TGF-β receptor type 1, resulting in a nonfunctional receptor protein. Although the receptor proteins are nonfunctional, cell signaling still occurs at an even greater frequency than normal, indicating that other, unknown mechanisms compensate for the lack of receptor activity. As a result, the signaling pathway is overactive, which disrupts development of connective tissue and various body systems and leads to the varied signs and symptoms of Loeys-Dietz syndrome types I and II.

Where is the TGFBR1 gene located?

Cytogenetic Location: 9q22

Molecular Location on chromosome 9: base pairs 101,867,411 to 101,916,473

The TGFBR1 gene is located on the long (q) arm of chromosome 9 at position 22.

The TGFBR1 gene is located on the long (q) arm of chromosome 9 at position 22.

More precisely, the TGFBR1 gene is located from base pair 101,867,411 to base pair 101,916,473 on chromosome 9.

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 TGFBR1?

You and your healthcare professional may find the following resources about TGFBR1 helpful.

  • Educational resources - Information pages

    • Molecular Biology of the Cell (fourth edition, 2002): Signal Proteins of the TGF-β Superfamily Act Through Receptor Serine/Threonine Kinases and Smads (http://www.ncbi.nlm.nih.gov/books/NBK26822/)
    • Molecular Biology of the Cell (fourth edition, 2002): TGFβ signaling (image) (http://www.ncbi.nlm.nih.gov/books/NBK21526/figure/A7151/)
    • Molecular Cell Biology (fourth edition, 2000): Loss of TGFβ Signaling Contributes to Abnormal Cell Proliferation and Malignancy (http://www.ncbi.nlm.nih.gov/books/NBK21526/)

  • Gene Reviews - Clinical summary

    • Gene Review: Loeys-Dietz Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=loeys-dietz)
    • Gene Review: Thoracic Aortic Aneurysms and Aortic Dissections (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=taa)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for TGFBR1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046%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=(TGFBR1%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/190181)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_TGFBR1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7046)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7046)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11772)

What other names do people use for the TGFBR1 gene or gene products?

  • serine/threonine-protein kinase receptor R4
  • TGF-beta receptor type-1
  • TGF-beta receptor type I
  • TGF-beta type I receptor
  • TGFR-1
  • TGFR1_HUMAN
  • transforming growth factor beta receptor I
  • transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)
  • transforming growth factor-beta receptor type I

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 TGFBR1?

acids ; aneurysm ; cell ; cell membrane ; connective tissue ; differentiation ; domain ; extracellular ; extracellular matrix ; familial ; gene ; growth factor ; intracellular ; kinase ; protein ; receptor ; serine ; signal transduction ; syndrome ; threonine ; tissue ; transduction ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7046)
  • Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24;355(8):788-98. (http://www.ncbi.nlm.nih.gov/pubmed/16928994?dopt=Abstract)
  • OMIM: TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I (http://omim.org/entry/190181)
  • Pezzini A, Del Zotto E, Giossi A, Volonghi I, Costa P, Padovani A. Transforming growth factor β signaling perturbation in the Loeys-Dietz syndrome. Curr Med Chem. 2012;19(3):454-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22335518?dopt=Abstract)
  • Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol. 2010 Nov;25(6):546-51. doi: 10.1097/HCO.0b013e32833f0220. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20838339?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2012
Published: May 13, 2013