fibrillin 1 Identifiers Symbol FBN1 Alt. symbols FBN, MFS1, WMS Entrez 2200 HUGO 3603 OMIM 134797 RefSeq NM_000138 UniProt P35555 Other data Locus Chr. 15 q21.1

fibrillin 2 Identifiers Symbol FBN2 Alt. symbols CCA Entrez 2201 HUGO 3604 OMIM 121050 RefSeq NM_001999 UniProt P35556 Other data Locus Chr. 5 q23-q31

fibrillin 3 Identifiers Symbol FBN3 Entrez 84467 HUGO 18794 OMIM 608529 RefSeq NM_032447 UniProt Q75N90 Other data Locus Chr. 19 p13

Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.^[1]

Contents 1 Types 1.1 Fibrillin-1 1.2 Fibrillin-2 1.3 Fibrillin-3 2 References 3 External links

[edit] Types

[edit] Fibrillin-1

Fibrillin-1 is a major component of the microfibrils that form a sheath surrounding the amorphous elastin. It is believed that the microfibrils are composed of end-to-end polymers of fibrillin. To date, 3 forms of fibrillin have been described. The fibrillin-1 protein was isolated by Engvall in 1986,^[2] and mutations in the gene have been linked to the Marfan syndrome. At present more than 100 different mutations have been described.

[edit] Fibrillin-2

Fibrillin-2 was isolated in 1994 by Zhang^[3] and is thought to play a role in early elastogenesis. Mutations in the fibrillin-2 gene have been linked to Beal's Syndrome.

[edit] Fibrillin-3

More recently, fibrillin-3 was described and is believed to be located mainly in the brain.^[4] Along with the brain, fibrillin-1 has been localized in the gonads and ovaries of field mice.

[edit] References

[edit] External links

• MeSH Fibrillin

v • d • e Histology: connective tissue Classification Proper/ Fibrous Loose Areolar · Reticular non-fibrous: Adipose (Brown, White) Dense Dense irregular connective tissue (Submucosa, Dermis) · Dense regular connective tissue (Ligament, Tendon, Aponeurosis) Embryonic Mucous · Mesenchymal Specialized Cartilage · Bone · Blood Composition Extracellular matrix (noncellular) Ground substance Tissue fluid Fibers Reticular fibers: Collagen Elastic fibers: Fibrillin (FBN1, FBN2, FBN3) Cells Resident Fibroblast · Reticular cell · Tendon cell Adipocyte Chondroblast · Osteoblast Wandering cell Mast cell · Macrophage see also soft tissue integument, SF, LCT navs: anat/physio, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc muscle, DF+DRCT navs: anat/hist/physio, acquired myopathy/congenital myopathy/neoplasia, symptoms+signs/eponymous, proc

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