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FBLN5 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FBLN5 gene

The FBLN5 gene provides instructions for making fibulin-5, a protein critical for the assembly of elastic fibers that provide strength and flexibility to connective tissues.

Normal Function

The FBLN5 gene provides instructions for making a protein called fibulin-5. This protein is part of a group of proteins called fibulins, which have a variety of functions in the extracellular matrix—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, which supports the body's joints and organs. Fibulin-5 is found in tissues and organs rich in elastic fibers, including developing arteries, heart valves, lungs, and skin.

Health Conditions Related to Genetic Changes

Age-related macular degeneration

Researchers have been studying FBLN5 gene variants (also called 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. Variants in the FBLN5 gene have been found in a small number of people with this condition, but changes in this gene are likely not a major risk factor. A combination of genetic and environmental factors likely determines the risk of developing this disease.

Cutis laxa

Variants in the FBLN5 gene have been identified in people with cutis laxa. Variants in this gene can cause two different types: autosomal dominant cutis laxa type 2 (ADCL2) and autosomal recessive cutis laxa type 1A (ARCL1A).

  • Autosomal dominant cutis laxa: One copy of the altered FBLN5 gene is sufficient to cause the disorder. This variant leads to the production of an abnormally long, nonfunctional version of fibulin-5 that interferes with the normal protein produced by the other copy of the gene. This severely reduces the amount of functional fibulin-5, preventing the assembly of elastic fibers and weakening connective tissue.
  • Autosomal recessive cutis laxa: Both copies of the gene must be altered. These variants change single amino acids in fibulin-5, altering the protein's structure and trapping it within the cell. Because the defective protein never reaches the extracellular matrix, it cannot assist in the assembly of elastic fibers, leading to weakened connective tissue throughout the body.

Charcot-Marie-Tooth disease

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease.

Other Names for This Gene

  • ARMD3
  • DANCE
  • developmental arteries and neural crest epidermal growth factor-like
  • EVEC
  • FBLN5_HUMAN
  • FIBL-5
  • FLJ90059
  • UP50
  • urine p50 protein

Frequently Asked Questions

While the most visible symptom is loose, sagging skin, FBLN5-related cutis laxa can also affect internal organs. This may include issues with the cardiovascular system (e.g., aneurysms, arterial tortuosity), respiratory system (e.g., emphysema-like changes in the lungs), gastrointestinal tract (e.g., diverticula), and urinary tract, due to the widespread presence of elastic fibers.
Management of cutis laxa is primarily supportive and multidisciplinary. It involves regular monitoring for potential complications in affected organ systems, such as cardiovascular evaluations, pulmonary function tests, and ophthalmologic exams. Surgical interventions may be considered for severe skin laxity or internal organ issues, but results can vary due to the underlying connective tissue fragility.
The inheritance pattern depends on the specific type of cutis laxa. Autosomal dominant cutis laxa type 2 (ADCL2) means there is a 50% chance for each child to inherit the condition if one parent is affected. Autosomal recessive cutis laxa type 1A (ARCL1A) means both parents must be carriers of a variant for their child to have a 25% chance of inheriting the condition.
While FBLN5 gene variants have been identified in a small number of people with age-related macular degeneration (AMD), current research suggests that changes in this gene are likely not a major risk factor. AMD is a complex condition influenced by a combination of many genetic and environmental factors, and FBLN5's contribution is considered minor compared to other known genetic risk factors.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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