Fibrillin 1
(Redirected from FBN1)
Fibrillin 1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. Fibrillin 1 is essential for the formation of elastic fibers found in connective tissue.
Structure[edit | edit source]
Fibrillin 1 is a large, extracellular matrix glycoprotein with a molecular weight of approximately 350 kDa. It is composed of a series of repeating modules, including 43 calcium-binding epidermal growth factor-like (cbEGF) domains and 7 transforming growth factor beta-binding protein-like (TB) domains.
Function[edit | edit source]
Fibrillin 1 is a major component of microfibrils, which provide force-bearing structural support in elastic and non-elastic tissues. Microfibrils are found in many tissues including the aorta, ligaments, and the ciliary zonules of the eye, which suspend the lens.
Fibrillin 1 also regulates the availability of transforming growth factor beta (TGF-β), a protein that controls cell growth and differentiation.
Clinical significance[edit | edit source]
Mutations in the FBN1 gene are associated with several notable disease conditions. These include Marfan syndrome, a disorder affecting the body's connective tissue, and Weill-Marchesani syndrome, a rare disorder that affects the body's connective tissue and causes short stature, eye abnormalities, and joint stiffness.
See also[edit | edit source]
References[edit | edit source]
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Contributors: Prab R. Tumpati, MD