Fibrillin

Fibrillin

protein
Name= fibrillin 1
caption=


width=
HGNCid=3603
Symbol=FBN1
AltSymbols=FBN, MFS1, WMS
EntrezGene=2200
OMIM=134797
RefSeq=NM_000138
UniProt=P35555
PDB=
ECnumber=
Chromosome=15
Arm=q
Band=21.1
LocusSupplementaryData=protein
Name=fibrillin 2
caption=


width=
HGNCid=3604
Symbol=FBN2
AltSymbols=CCA
EntrezGene=2201
OMIM=121050
RefSeq=NM_001999
UniProt=P35556
PDB=
ECnumber=
Chromosome=5
Arm=q
Band=23
LocusSupplementaryData=-q31protein
Name=fibrillin 3
caption=


width=
HGNCid=18794
Symbol=FBN3
AltSymbols=
EntrezGene=84467
OMIM=608529
RefSeq=NM_032447
UniProt=Q75N90
PDB=
ECnumber=
Chromosome=19
Arm=p
Band=13
LocusSupplementaryData=

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

Types


=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, [cite journal |author=Sakai LY, Keene DR, Engvall E |title=Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils |journal=J. Cell Biol. |volume=103 |issue=6 Pt 1 |pages=2499–509 |year=1986 |pmid=3536967 |doi=10.1083/jcb.103.6.2499] and mutations in the gene have been linked to the Marfan syndrome. At present more than 100 different mutations have been described.

Fibrillin-2

Fibrillin-2 was isolated in 1994 by Zhang [cite journal |author=Zhang H, Apfelroth SD, Hu W, "et al" |title=Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices |journal=J. Cell Biol. |volume=124 |issue=5 |pages=855–63 |year=1994 |pmid=8120105 |doi=10.1083/jcb.124.5.855] and is thought to play a role in early elastogenesis. Mutations in the fibrillin-2 gene have been linked to Beal's Syndrome.

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.

References

External links

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Look at other dictionaries:

  • fibrillin — fibrillin. См. фибриллин. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • fibrillin — A microfibrillar protein in connective tissue with a wide distribution in the body; molecular weight about 350,000. There is good evidence that Marfan syndrome is due to mutations of f. [MIM*134797]. [Mod. L. fibrilla, fibril, + in] * * *… …   Medical dictionary

  • fibrillin — Widely distributed connective tissue protein (350 kD) associated with microfibrils (10nm diameter) …   Dictionary of molecular biology

  • fibrillin — noun A glycoprotein present in human skin, necessary for forming the elastic fibres in connective tissue …   Wiktionary

  • Fibrillin — Fi|bril|lin, das; (Med.): Hauptbestandteil der Fibrillen …   Universal-Lexikon

  • Fibrillin — Fi|brilli̱n: Hauptbestandteil der Fibrillen …   Das Wörterbuch medizinischer Fachausdrücke

  • fibrillin — fiˈbrillin noun A protein found in connective tissue • • • Main Entry: ↑fibril …   Useful english dictionary

  • FBN1 — Fibrillin 1 PDB rendering based on 1apj …   Wikipedia

  • фибриллин — fibrillin фибриллин (см. Marfan syndrome). (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Marfan syndrome — Marfan redirects here. For the person after whom the syndrome is named, see Antoine Marfan. Marfan syndrome Classification and external resources Micrograph demonstrating myxomatous degeneration of the aorti …   Wikipedia

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