FBN2 Antibody – Rabbit Polyclonal

FBN2: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2- containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. Defects in FBN2 are the cause of distal arthrogryposis type 9 (DA9). A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA9 is a connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears. Belongs to the fibrillin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 5q23-q31

Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular region; microfibril

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

Biological Process: extracellular matrix disassembly; positive regulation of osteoblast differentiation; extracellular matrix organization and biogenesis; anatomical structure morphogenesis; positive regulation of bone mineralization; embryonic limb morphogenesis

Disease: Macular Degeneration, Early-onset; Arthrogryposis, Distal, Type 9