Sandbox Reserved 1645: Difference between revisions
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== FBN1 gene == | == FBN1 gene == | ||
This gene <ref>Weizmann Institute of Science, FBN1 gene, last consulted [09/01/22],https://www.genecards.org/cgi-bin/carddisp.pl?gene=FBN1</ref> encodes a member of the '''fibrillin family''' of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with '''Marfan syndrome''' and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016] | This gene <ref>Weizmann Institute of Science, FBN1 gene, last consulted [09/01/22],https://www.genecards.org/cgi-bin/carddisp.pl?gene=FBN1</ref> encodes a member of the '''fibrillin family''' of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with '''Marfan syndrome''' and the related MASS phenotype, as well as ectopia lentis syndrome, [https://en.wikipedia.org/wiki/Weill%E2%80%93Marchesani_syndrome Weill-Marchesani syndrome], [https://en.wikipedia.org/wiki/Shprintzen%E2%80%93Goldberg_syndrome Shprintzen-Goldberg syndrome] and [https://en.wikipedia.org/wiki/Wiedemann%E2%80%93Rautenstrauch_syndrome neonatal progeroid syndrome]. [provided by RefSeq, Apr 2016] | ||
== Biological Function == | == Biological Function == | ||
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'''Fetal''' '''cardiovascular''' development: | '''Fetal''' '''cardiovascular''' development: | ||
The FBN-1 gene is involved in a variety of embryonic developmental programs. The microfibrils that are made from fibrillin-1 contribute to both elastic and non-elastic structures. The formation of the elastic fibers in the heart valves and the aorta require the involvement of both FBN-1 and FBN-2.It has been shown that both FBN-1 and FBN-2, along with the other components of elastic fibers, are expressed in the embryonic semilunar valves as early as 4 weeks of gestation. These molecules interact to form the elastic fibers in the ventricularis layer of the semilunar valves. Fibrillin-1 and fibrillin-2 are also crucial for the development of elastic fibers in the aorta. While expression of fibrillin-2 decreases significantly after fetal development, the expression of fibrillin-1 continues into adulthood. This supports the idea that | The FBN-1 gene is involved in a variety of embryonic developmental programs. The microfibrils that are made from fibrillin-1 contribute to both elastic and non-elastic structures. The formation of the elastic fibers in the heart valves and the aorta require the involvement of both FBN-1 and FBN-2.It has been shown that both FBN-1 and FBN-2, along with the other components of elastic fibers, are expressed in the embryonic semilunar valves as early as 4 weeks of gestation. These molecules interact to form the elastic fibers in the ventricularis layer of the semilunar valves. Fibrillin-1 and fibrillin-2 are also crucial for the development of elastic fibers in the aorta. While expression of fibrillin-2 decreases significantly after fetal development, the expression of fibrillin-1 continues into adulthood. This supports the idea that fibrillin-2 dictates the development of early elastic fibers, while fibrillin-1 provides the structural support of mature elastic fibers.<ref>Quondamatteo F, Reinhardt DP, Charbonneau NL, Pophal G, Sakai LY, Herken R (December 2002). "Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development". Matrix Biology. 21 (8): 637–46. doi:10.1016/s0945-053x(02)00100-2. PMID 12524050. / Ammash NM, Sundt TM, Connolly HM (January 2008). "Marfan syndrome-diagnosis and management". Current Problems in Cardiology. 33 (1): 7–39. doi:10.1016/j.cpcardiol.2007.10.001. PMID 18155514. / Votteler M, Berrio DA, Horke A, Sabatier L, Reinhardt DP, Nsair A, Aikawa E, Schenke-Layland K (June 2013). "Elastogenesis at the onset of human cardiac valve development". Development. 140 (11): 2345–53. doi:10.1242/dev.093500. PMC 3912871. PMID 23637335.</ref> | ||
== Diseases caused by mutation == | == Diseases caused by mutation == | ||
