Aug 28, 2014 · FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, …

The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and …

Mar 30, 2025 · FBN1 (Fibrillin 1) is a Protein Coding gene. Diseases associated with FBN1 include Marfan Syndrome and Stiff Skin Syndrome . Among its related pathways are Integrin …

FBN1 is a 230-kb gene with 65 coding exons that encode a 2,871-amino-acid long proprotein called profibrillin which is proteolytically cleaved near its C-terminus by the enzyme furin …

Fibrillin-1 (FBN1) is a large, cysteine-rich, calcium binding extracellular matrix glycoprotein encoded by FBN1 gene. It serves as a structural component of microfibrils and provides force …

A pathogenic or likely pathogenic variant associated with Marfan syndrome was found in the FBN1 gene. People with Marfan syndrome have a significantly increased risk of developing an …

Feb 8, 2025 · This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular …

Mar 24, 2022 · The FBN1 gene makes fibrillin-1, which is a protein that forms elastic fibers within connective tissue to support your bones, muscles, and organs. Fibrillin-1 also affects levels of …

The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and …

Nov 3, 2024 · This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular …