Fibrillin 1 (FBN1) Antibody – Rabbit Polyclonal

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: Secreted; Extracellular matrix; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 15q21.1

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

Molecular Function: protein binding; extracellular matrix structural constituent; calcium ion binding

Biological Process: extracellular matrix disassembly; extracellular matrix organization and biogenesis; heart development; metanephros development; skeletal development

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