Fibrillin

Source: Wikipedia, the free encyclopedia.
Not to be confused with Fibrin.
Chr. 15 q21.1
Search for
StructuresSwiss-model
DomainsInterPro
fibrillin 2
Identifiers
SymbolFBN2
Alt. symbolsCCA
Chr. 5 q23-q31
Search for
StructuresSwiss-model
DomainsInterPro
fibrillin 3
Identifiers
SymbolFBN3
Chr. 19 p13
Search for
StructuresSwiss-model
DomainsInterPro

Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.[2] Fibrillin is secreted into the

fibroblasts
and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffold for deposition of elastin.[3]

Clinical aspects

FBN2 are also sometimes associated with adolescent idiopathic scoliosis.[4]

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 Engvall in 1986,[5] and mutations in the FBN1 gene cause Marfan syndrome.[6][7]

This protein is found in humans, and its gene is found on chromosome 15. At present more than 1500 different mutations have been described.[1][7]

Structure

There is no complete, high-resolution structure of fibrillin-1. Instead, short fragments have been produced recombinantly and their structures solved by X-ray crystallography or using NMR spectroscopy. A recent example is the structure of the fibrillin-1 hybrid2 domain, in context of its flanking calcium binding epidermal growth factor domains, which was determined using X-ray crystallography to a resolution of 1.8 Å.[1] The microfibrils that are made up of fibrillin protein are responsible for different cell-matrix interactions in the human body.

Fibrillin-2

Fibrillin-2 was isolated in 1994 by Zhang

Beals syndrome
.

Fibrillin-3

More recently, fibrillin-3 was described and is believed to be located mainly in the brain.[9] Along with the brain, fibrillin-3 has been localized in the gonads and ovaries of field mice.

Fibrillin-4

Fibrillin-4 was first discovered in zebrafish, and has a sequence similar to fibrillin-2.[10]

References

  1. ^
    PMID 19446531
    .
  2. PMID 11911778
    .
  3. ISBN 978-81-8061-809-3. Retrieved 9 December 2010.[permanent dead link
    ]
  4. PMID 24833718
    .
  5. PMID 3536967
    .
  6. PMID 20818846
    .
  7. ^
    PMID 26124674
    .
  8. PMID 8120105
    .
  9. PMID 14962672
    .
  10. PMID 18816837
    .

External links
Retrieved from "https://en.wikipedia.org/w/index.php?title=Fibrillin&oldid=1212948684"