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...
29 KB (3,707 words) - 23:15, 8 January 2024
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. Fibrillin is secreted into the extracellular...
7 KB (779 words) - 09:37, 10 March 2024
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...
73 KB (6,827 words) - 01:57, 25 May 2024
which encodes fibrillin-1. Fibrillin-1 is an extracellular matrix protein that is found in microfibrils; defects in the fibrillin-1 protein cause the...
5 KB (417 words) - 08:19, 18 August 2023
Asprosin (section Fibrillin-1)
seen to have two consequences for protein production: a mutant/truncated fibrillin protein and very low plasma asprosin levels (from a postulated dominant...
21 KB (2,349 words) - 00:01, 10 March 2024
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...
7 KB (608 words) - 02:19, 3 December 2023
components of the extracellular matrix like fibrillin and LTBP-1 (Latent-transforming growth factor beta-binding protein 1). In addition to the aforementioned...
25 KB (3,071 words) - 21:41, 10 September 2022
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...
5 KB (611 words) - 00:11, 29 January 2023
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),...
34 KB (3,031 words) - 03:36, 10 March 2024
encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone...
8 KB (849 words) - 20:35, 22 July 2023