fibrillin 1
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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 the extracellular matrix, fibrillin-1 proteins bind to each other and to other proteins to form threadlike filaments called microfibrils, which are organized into a network. This microfibrillar network acts as a platform or scaffold for the assembly of elastic fibers, which enable the skin, ligaments, and blood vessels to stretch. The microfibrillar network also provides support to the bones and to the tissues that support the nerves, muscles, and lenses of the eyes.
Normal function
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 the extracellular matrix, fibrillin-1 proteins bind to each other and to other proteins to form threadlike filaments called microfibrils, which are organized into a network. This microfibrillar network acts as a platform or scaffold for the assembly of elastic fibers, which enable the skin, ligaments, and blood vessels to stretch. The microfibrillar network also provides support to the bones and to the tissues that support the nerves, muscles, and lenses of the eyes.
As part of the microfibrillar network, fibrillin-1 also regulates certain growth factor proteins. Growth factors are important proteins that help regulate cell processes such as the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). A particular growth factor called transforming growth factor beta (TGF-β) is stored within the microfibrillar network. When it is stored, TGF-β is turned off. Once it is released from the network, TGF-β is turned on and can activate important signaling pathways, including those involved in bone formation. By helping to regulate the availability of TGF-β, fibrillin-1 also helps regulate its activity.
Conditions referring to this gene or chromosome
Other names
asprosin
Marfans syndrom
MASS
OCTD
SGS
Related patient information and medicines
Patient information leaflet
Marfans syndrom
Marfan syndrome (named after Dr Antoine Marfan, the French doctor who first described it in 1896) is a genetic disorder which people are born with and which lasts lifelong. Marfan syndrome is caused by a change (mutation) in the genetic material on one of your chromosomes (chromosome number 15). The gene that is affected is responsible for making.
Patient information leaflet
Resa till avlägsna platser
Self-treatment is a last resort as it is very difficult for anyone to make treatment decisions about themselves. Reference book Pocket First Aid and Wilderness Medicine: Drs Jim Duff and Peter Gormly (2010). This is an excellent handbook covering what to do as a layperson in most medical situations you might encounter. Equipment Thermom....
Patient information leaflet
5:2 diet
The 5:2 diet is a calorie-restricted diet that involves eating 'normally' for five days out of seven and then 'fasting' on the other two days out of seven. Protection against dementia. The theory is that the fasting days lower the levels of a certain chemical in the body known as insulin-like growth factor 1 (IGF-1). It is thought that high levels.
Patient information leaflet
Kan jag ta Atorvastatin och fibertillskott tillsammans?
Taking fibre supplements at the same time as atorvastatin can lower the amount of medicine your body absorbs. ...nd to the atorvastatin in your stomach or intestines, preventing it from entering your bloodstreamOur Interaktionskontroll för läkemedel helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to.
Patient information leaflet
Körning och diabetes
Insulin, used for people with typ 1-diabetes and some people with type 2, can cause your blood sugar to drop too low - so-called hypoglycaemia episodes, or hypos. So too can some tablets used to treat type 2 diabetes - mostly tablets called sulfony... So the DVLA has set out guidelines for people with all diabetes - and whether you have type 1 or.
Patient information leaflet
Jättecellsarterit
En of the arteries that is commonly affected is the temporal artery. (You have a temporal artery on each side of your head. They lie under the skin to the sides of the forehead - the temple area - and supply blood to this area). This is why the condition is also called temporal arteritis. Giant cell arteritis (temporal arteritis) causes No one.
Vidare läsning och referenser
- fibrillin 1; MedlinePlus, National Library of Medicine.
- Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat. 2005 Nov;26(5):494. doi: 10.1002/humu.9377.
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- Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25.
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- Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA. 1989 Jul 28;262(4):523-8.
- Globa E, Zelinska N, Dauber A. The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. Case Rep Endocrinol. 2018 Jul 3;2018:8212417. doi: 10.1155/2018/8212417. eCollection 2018.
- Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16.
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- Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonniere M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V. Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases. Genet Med. 2021 Feb;23(2):331-340. doi: 10.1038/s41436-020-00994-x. Epub 2020 Oct 21.
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Artikelhistorik
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1 Apr 2026 | Senaste versionen
1 Apr 2026 | Ursprungligen publicerad
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