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Reviewed June 2009
What is the official name of the FBLN5 gene?
The official name of this gene is “fibulin 5.”
FBLN5 is the gene's official symbol. The FBLN5 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the FBLN5 gene?
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.
How are changes in the FBLN5 gene related to health conditions?
Genetics Home Reference provides information about age-related macular degeneration, which is also associated with changes in the FBLN5 gene.
Where is the FBLN5 gene located?
Cytogenetic Location: 14q32.1
Molecular Location on chromosome 14: base pairs 91,869,411 to 91,947,702
The FBLN5 gene is located on the long (q) arm of chromosome 14 at position 32.1.
More precisely, the FBLN5 gene is located from base pair 91,869,411 to base pair 91,947,702 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about FBLN5?
You and your healthcare professional may find the following resources about FBLN5 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the FBLN5 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding FBLN5?
acids ; arteries ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; connective tissue ; elastic ; extracellular ; extracellular matrix ; gene ; growth factor ; mutation ; neural crest ; protein ; recessive ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.