Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves...

Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. Fibrillin is secreted into the extracellular...

variable. MFS is caused by a mutation in FBN1, one of the genes that make fibrillin, which results in abnormal connective tissue. It is an autosomal dominant...

which encodes fibrillin-1. Fibrillin-1 is an extracellular matrix protein that is found in microfibrils; defects in the fibrillin-1 protein cause the...

seen to have two consequences for protein production: a mutant/truncated fibrillin protein and very low plasma asprosin levels (from a postulated dominant...

unlike Marfan's, CCA is caused by mutations to the fibrillin-2 (FBN2) gene rather than the fibrillin-1 (FBN1) gene. Signs and symptoms of CCA often resemble...

mutations in the gene encoding for the fibrillin-1 protein impact nearly every one of its domains. Such defects in fibrillin-1 affect the signaling of TGFβ, as...

components of the extracellular matrix like fibrillin and LTBP-1 (Latent-transforming growth factor beta-binding protein 1). In addition to the aforementioned...

is found on chromosome 15, as well as the FBN1 gene, coding for both fibrillin-1 (a protein critical to the proper functioning of connective tissue),...

encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone...