FBLN5 : fibulin 5
Description
The FBLN5 gene encodes fibulin-5, a protein crucial for the assembly and integrity of the extracellular matrix (ECM). The ECM provides structural support, regulates cell signaling, and plays a vital role in tissue development and homeostasis. Fibulin-5 interacts with various ECM components, including elastin, collagen, and other fibulins. This interaction helps maintain the elasticity and structural integrity of tissues like blood vessels, skin, and tendons. Mutations in the FBLN5 gene can disrupt these interactions, leading to a range of disorders affecting connective tissues.
Associated Diseases
- Familial thoracic aortic aneurysm (FTA)
- Ehlers-Danlos syndrome (EDS)
- Cutis laxa (CL)
- Aortic dissection
- Myocardial infarction
- Osteoporosis
- Pulmonary emphysema
Did you know?
Fibulin-5 is particularly abundant in tissues with high elastic properties, such as the aorta, skin, and lungs.
