Sandbox Reserved 1645: Difference between revisions

Line 17:

== 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, [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 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 ==

Sandbox Reserved 1645: Difference between revisions

Navigation menu

Page actions

Page actions

Personal tools

Navigation

Search

Tools

@@ Line 17: / Line 17: @@
 == 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, [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 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 ==