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Reviewed July 2014
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.
Read more about gene names and symbols on the About page.
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, 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 TGF-β receptor type 1, which turns on (activates) the receptor and allows it to bind to a similar receptor on the cell surface. These three proteins form a complex, which 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, including the growth and division (proliferation) of cells, the maturation of cells to carry out specific functions (differentiation), cell movement (motility), and controlled cell death (apoptosis). Because TGF-β receptor type 1 keeps cells from growing and dividing too rapidly or in an uncontrolled way, it is also important in suppressing the formation of tumors.
How are changes in the TGFBR1 gene related to health conditions?
Genetics Home Reference provides information about familial thoracic aortic aneurysm and dissection, which is also associated with changes in the TGFBR1 gene.
Where is the TGFBR1 gene located?
Cytogenetic Location: 9q22
Molecular Location on chromosome 9: base pairs 99,104,037 to 99,154,191
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 99,104,037 to base pair 99,154,191 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TGFBR1?
You and your healthcare professional may find the following resources about TGFBR1 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 TGFBR1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 TGFBR1?
acids ; acquired mutation ; aneurysm ; apoptosis ; cancer ; cell ; cell membrane ; connective tissue ; differentiation ; domain ; epithelioma ; extracellular ; familial ; gene ; growth factor ; inherited ; intracellular ; kinase ; mutation ; proliferation ; protein ; receptor ; serine ; signal transduction ; somatic mutation ; spontaneous ; syndrome ; threonine ; tissue ; transduction ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.