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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?

cutis laxa - caused by mutations in the FBLN5 gene

At least four mutations in the FBLN5 gene have been identified in people with cutis laxa. Mutations in this gene can cause two different types of cutis laxa: an autosomal dominant form and an autosomal recessive form. In autosomal dominant cutis laxa, one copy of the altered FBLN5 gene in each cell is sufficient to cause the characteristic features of the disorder. In autosomal recessive cutis laxa, both copies of the gene in each cell must be altered to result in the disease.

The FBLN5 mutation known to cause autosomal dominant cutis laxa leads to the production of an abnormally long, nonfunctional version of fibulin-5. This abnormal protein interferes with the normal fibulin-5 produced from the other, unaltered copy of the FBLN5 gene. As a result, the amount of functional fibulin-5 in the extracellular matrix is severely reduced. A shortage of this protein prevents the assembly of elastic fibers, which weakens connective tissue in the skin, arteries, lungs, and other organs. These defects in connective tissue underlie the major features of cutis laxa.

Autosomal recessive cutis laxa results from FBLN5 mutations that change single protein building blocks (amino acids) in fibulin-5. These mutations alter the structure of the protein, trapping it within the cell. Because the defective fibulin-5 never makes it to the extracellular matrix, it is not available for the assembly of elastic fibers. A shortage of normal elastic fibers weakens connective tissue throughout the body, leading to the signs and symptoms of cutis laxa.

other disorders - increased risk from variations of the FBLN5 gene

Researchers have been studying FBLN5 mutations as a possible risk factor for age-related macular degeneration, an eye disease that is a leading cause of vision loss among older people worldwide. Mutations in the FBLN5 gene have been found in a small number of people with age-related macular degeneration, but changes in this gene are probably not a major risk factor for this common eye disorder. A combination of genetic and environmental factors likely determine the risk of developing this disease.

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

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The FBLN5 gene is located on the long (q) arm of chromosome 14 at position 32.1.

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?

  • ARMD3
  • developmental arteries and neural crest epidermal growth factor-like
  • EVEC
  • FIBL-5
  • FLJ90059
  • UP50
  • urine p50 protein

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.

Reviewed: June 2009
Published: February 8, 2016