The FBLN5 gene provides instructions for making a protein called fibulin-5. This protein is part of a group of proteins called fibulins. Fibulins have a variety of functions in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells.
In the extracellular matrix, fibulin-5 appears to play a critical role in the assembly of elastic fibers. These slender bundles of proteins provide strength and flexibility to connective tissue (tissue that supports the body’s joints and organs). Fibulin-5 is found in tissues and organs that are rich in elastic fibers, including developing arteries and the heart valves, lungs, and skin.
Other Names
ARMD3; DANCE; developmental arteries and neural crest epidermal growth factor-like; EVEC; FBLN5_HUMAN; FIBL-5; FLJ90059; UP50; urine p50 protein
Related Genetics Topics
Identifiers
- NCBI Gene: 10516
- OMIM: 604580
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
