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. In the extracellular matrix, fibrillin-1 proteins bind to each other and to other proteins to form threadlike filaments called microfibrils, which are organized into a network. This microfibrillar network acts as a platform or scaffold for the assembly of elastic fibers, which enable the skin, ligaments, and blood vessels to stretch. The microfibrillar network also provides support to the bones and to the tissues that support the nerves, muscles, and lenses of the eyes.
As part of the microfibrillar network, fibrillin-1 also regulates certain growth factor proteins. Growth factors are important proteins that help regulate cell processes such as the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). A particular growth factor called transforming growth factor beta (TGF-β) is stored within the microfibrillar network. When it is stored, TGF-β is turned off. Once it is released from the network, TGF-β is turned on and can activate important signaling pathways, including those involved in bone formation. By helping to regulate the availability of TGF-β, fibrillin-1 also helps regulate its activity.
Other Names
asprosin; Marfan syndrome; MASS; OCTD; SGS
Related Genetics Topics
- Marfan syndrome — MedlinePlus Genetics
- Weill-Marchesani syndrome — MedlinePlus Genetics
- Geleophysic dysplasia — MedlinePlus Genetics
- Familial thoracic aortic aneurysm and dissection — MedlinePlus Genetics
- Acromicric dysplasia — MedlinePlus Genetics
- Isolated ectopia lentis — MedlinePlus Genetics
Identifiers
- NCBI Gene: 2200
- OMIM: 134797
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
