2024年12月25日 · 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 Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent.

2001年4月18日 · FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue, is part of a broad phenotypic continuum associated with heterozygous FBN1 pathogenic variants that ranges from mild (features of Marfan syndrome in one or a few systems) to severe (rapidly progressive multiorgan disease in neonates). Cardinal ...

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. [5] [6] It is a large, extracellular matrix glycoprotein that serves as a structural component of 10–12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue ...

2014年8月28日 · FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection.

Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis.

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 other molecules that forms in the spaces between cells.

2025年2月8日 · Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis.

目前已经明确MFS的产生主要是由15号染色体q21.1位点上的 原纤维蛋白-1基因 （FBN1）突变所致，其包括65个外显子，长度约235kb，编码一种相对分子质量为350kDa的糖蛋白-原纤维蛋白1（Fib-1），在细胞外基质聚合后形成直径为10nm的微纤维蛋白，广泛存在于人体的弹性 ...

2024年1月10日 · 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-bearing mechanical support in elastic and nonelastic connective tissue.

fbn1基因编码纤维蛋白，是细胞外微纤维的主要组成成分，在整个身体的弹性和非弹性结缔组织中广泛分布，如主动脉、晶体悬韧带及骨膜。 匹配受检者临床表现，OMIM收录该基因变异关联疾病表型为：