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Reviewed March 2012
What is the official name of the FBN1 gene?
The official name of this gene is “fibrillin 1.”
FBN1 is the gene's official symbol. The FBN1 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 FBN1 gene?
The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In this matrix, fibrillin-1 binds to other molecules of fibrillin-1 and other proteins to form threadlike filaments called microfibrils. Microfibrils form elastic fibers, which enable the skin, ligaments, and blood vessels to stretch. Microfibrils also provide support to more rigid tissues such as those that support the nerves, muscles, and lenses of the eyes.
Microfibrils store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β 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). Microfibrils help regulate the availability of TGF-β, which is turned off (inactivated) when stored in microfibrils and turned on (activated) when released.
How are changes in the FBN1 gene related to health conditions?
Genetics Home Reference provides information about these additional conditions, which are also associated with changes in the FBN1 gene:
Where is the FBN1 gene located?
Cytogenetic Location: 15q21.1
Molecular Location on chromosome 15: base pairs 48,700,502 to 48,937,984
The FBN1 gene is located on the long (q) arm of chromosome 15 at position 21.1.
More precisely, the FBN1 gene is located from base pair 48,700,502 to base pair 48,937,984 on chromosome 15.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about FBN1?
You and your healthcare professional may find the following resources about FBN1 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 FBN1 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 FBN1?
amino acid ; aneurysm ; aorta ; apoptosis ; arachnodactyly ; cell ; connective tissue ; craniosynostosis ; differentiation ; dislocation ; dysplasia ; ectopia lentis ; elastic ; extracellular ; extracellular matrix ; familial ; gene ; growth factor ; joint ; microfibrils ; mitral valve ; mutation ; proliferation ; protein ; short stature ; stature ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 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.