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TGFB1

TGFB1

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.

Read more about gene names and symbols on the About page.

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.

Does the TGFB1 gene share characteristics with other genes?

The TGFB1 gene belongs to a family of genes called endogenous ligands (endogenous ligands).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

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 41,330,530 to 41,353,932

The TGFB1 gene is located on the long (q) arm of chromosome 19 at position 13.1.

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 41,330,530 to base pair 41,353,932 on chromosome 19.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TGFB1?

You and your healthcare professional may find the following resources about TGFB1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TGFB1 gene or gene products?

  • CED
  • diaphyseal dysplasia 1, progressive
  • DPD1
  • TGFB
  • TGFB1_HUMAN
  • TGFbeta
  • TGF-beta-1
  • TGF-beta 1 protein
  • transforming growth factor beta 1
  • transforming growth factor-beta 1
  • transforming growth factor, beta 1 (Camurati-Engelmann disease)

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TGFB1?

References (11 links)

 

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? in the Handbook.

 
Reviewed: April 2008
Published: November 24, 2014