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

FLCN gene

The FLCN gene provides instructions for making the protein folliculin, which is believed to function as a tumor suppressor to control cell growth and division.

Normal Function

The FLCN gene provides instructions for making a protein called folliculin. Researchers have not determined the protein's exact function, but they believe it may act as a tumor suppressor. Tumor suppressors help control the growth and division of cells.

The folliculin protein is present in many of the body's tissues, including the brain, heart, placenta, testis, skin, lung, and kidney. Researchers have proposed several possible roles for the protein within cells, including:

  • Assisting in the uptake of foreign particles (endocytosis or phagocytosis).
  • Playing a role in the structural framework that defines the shape, size, and movement of a cell (the cytoskeleton).
  • Facilitating interactions between cells.
  • Repairing and re-forming lung tissue following damage.

Health Conditions Related to Genetic Changes

Birt-Hogg-Dubé syndrome

Several mutations in the FLCN gene have been identified in people with Birt-Hogg-Dubé syndrome, a condition characterized by multiple noncancerous (benign) skin tumors, an increased risk of other tumors, and lung cysts. These mutations typically lead to the production of an abnormally small, nonfunctional version of the folliculin protein. Without functional folliculin, cells may grow and divide uncontrollably, leading to tumor formation.

Primary spontaneous pneumothorax

At least eight mutations in the FLCN gene have been found to cause primary spontaneous pneumothorax. This condition occurs when air builds up abnormally in the space between the lungs and the chest cavity (pleural space), potentially leading to a partial or complete collapse of the lung. The altered folliculin protein may trigger inflammation within lung tissue, leading to the formation of small air sacs (blebs) that can rupture.

Other cancers

Somatic mutations in the FLCN gene—changes acquired during a person's lifetime that are not inherited—are associated with several types of nonhereditary (sporadic) tumors. These include some cases of clear cell renal cell carcinoma (a type of kidney cancer) and some colon cancers. These mutations may disrupt the tumor suppressor function of the folliculin protein.

Other Names for This Gene

  • BHD
  • FLCL
  • FLCN_HUMAN
  • MGC17998
  • MGC23445

Frequently Asked Questions

Birt-Hogg-Dubé (BHD) syndrome is characterized by three main features: multiple benign skin tumors (fibrofolliculomas, trichodiscomas, acrochordons), lung cysts that increase the risk of spontaneous pneumothorax (collapsed lung), and an increased risk of developing kidney tumors, particularly chromophobe renal cell carcinoma and renal oncocytoma. Individuals with FLCN mutations should be aware of these risks and monitor for symptoms like sudden chest pain or shortness of breath.
Regular monitoring is crucial for individuals with BHD syndrome. This typically includes annual dermatological exams for skin lesions, regular kidney imaging (such as MRI or CT scans) starting in early adulthood to screen for kidney tumors, and lung imaging (CT scans) to monitor for cysts
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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