FBN1 Antibody – Goat Polyclonal

This gene 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]

FBN1: a large, extracellular matrix glycoprotein of the fibrillin family that serves as a structural component of 10-12 nm calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1- containing microfibrils provide long-term force bearing structural support in elastic and nonelastic connective tissue throughout the body. May regulate osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. Defects in this protein are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. Interacts with COL16A1.

Protein type: Extracellular matrix; Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 15q21.1

Cellular Component: basement membrane; extracellular matrix; extracellular region; extracellular space; microfibril; proteinaceous extracellular matrix

Molecular Function: calcium ion binding; extracellular matrix constituent conferring elasticity; extracellular matrix structural constituent; integrin binding; protein binding; protein complex binding

Biological Process: camera-type eye development; embryonic eye morphogenesis; extracellular matrix disassembly; extracellular matrix organization and biogenesis; heart development; metanephros development; post-embryonic eye morphogenesis; skeletal development

Disease: Acromicric Dysplasia; Ectopia Lentis 1, Isolated, Autosomal Dominant; Geleophysic Dysplasia 2; Marfan Syndrome; Mass Syndrome; Stiff Skin Syndrome; Weill-marchesani Syndrome 2