Fibrillin

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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 (congenital contractural arachnodactyly)
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 Types
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 Sakai in 1986,^[1] 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^[2] and is thought to play a role in early elastogenesis. Mutations in the fibrillin-2 gene have been linked to arachnodactyly (which is also a clinical symptom of Marfan syndrome).

[edit] Fibrillin-3

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

[edit] References

^ Sakai LY, Keene DR, Engvall E (1986). "Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils". J. Cell Biol. 103 (6 Pt 1): 2499-509. doi:10.1083/jcb.103.6.2499. PMID 3536967.
^ Zhang H, Apfelroth SD, Hu W, et al (1994). "Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices". J. Cell Biol. 124 (5): 855-63. doi:10.1083/jcb.124.5.855. PMID 8120105.