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FTL gene

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

FTL gene

The FTL gene provides instructions for the ferritin light chain, a critical component of the protein ferritin, which regulates iron storage and release within cells.

Normal Function

The FTL gene provides instructions for making the ferritin light chain, which is one part (subunit) of a protein called ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of the ferritin light chain and another subunit called the ferritin heavy chain, which is produced from another gene. The proportion of the two subunits varies in different tissues.

Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms inside its spherical structure. This storage capacity allows ferritin to regulate the amount of iron in cells and tissues. Iron is needed for the body to produce red blood cells.

Health Conditions Related to Genetic Changes

Hyperferritinemia-cataract syndrome

At least 31 mutations in the FTL gene have been identified in people with hyperferritinemia-cataract syndrome. Individuals affected by this disorder have an excess of ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts) in infancy.

The mutations that cause hyperferritinemia-cataract syndrome are found in a segment of the gene called the iron responsive element (IRE). The IRE normally can attach (bind) to a protein called the iron regulatory protein (IRP). When this binding occurs, the activity (expression) of the FTL gene is stopped to prevent too much ferritin light chain from being produced. This normally occurs when iron levels are low, because under those circumstances less ferritin is needed to store the iron. Mutations in the IRE segment of the FTL gene prevent it from binding with IRP, interfering with the mechanism by which ferritin production is matched to iron levels and resulting in excess ferritin being formed.

Neuroferritinopathy

At least four mutations in the FTL gene have been identified in people with neuroferritinopathy, a disorder in which iron gradually accumulates in the brain. These mutations all affect an area of the gene known as exon 4. The most common mutation detected in people with this disorder inserts the DNA building block (nucleotide) adenine between positions 460 and 461 in the gene sequence. Researchers believe that most families with this mutation descend from a common ancestor who lived in northwest England before 1800.

Mutations in the FTL gene that cause neuroferritinopathy are believed to reduce ferritin's ability to store iron, resulting in the release of excess iron in nerve cells (neurons) of the brain. The cells may respond by producing more ferritin in an attempt to handle the free iron. Excess iron and ferritin accumulate in the brain, particularly in certain regions that help to control movement (basal ganglia), resulting in the movement problems and other neurological changes seen in neuroferritinopathy.

Other Names for This Gene

  • ferritin L subunit
  • ferritin L-chain
  • ferritin light polypeptide-like 3
  • ferritin, light polypeptide
  • FRIL_HUMAN
  • L apoferritin
  • MGC71996
  • NBIA3

Genomic Location

The FTL gene is found on chromosome 19.

Frequently Asked Questions

The most distinct early sign is the development of cataracts, which often appear in infancy or early childhood. Unlike typical age-related cataracts, these cloudings of the eye lens occur very early in life. Parents or pediatricians may notice that the child is squinting, sensitive to bright light, or has a white or grayish appearance in the pupil. Because the condition involves excess ferritin in the blood, routine blood tests might also reveal elevated ferritin levels, but the visual symptoms are usually the primary clinical indicator that leads to a diagnosis. Can mutations in the FTL gene cause iron overload damage to organs like the liver or heart?::No, hyperferritinemia-cataract syndrome is distinct from hereditary hemochromatosis. In this condition, the body produces too much ferritin protein, but the actual amount of iron stored in the body is usually normal or even low. The problem is a storage defect where iron is trapped inside the ferritin molecule rather than being released or properly regulated. Consequently, patients do not typically suffer from the organ damage (such as liver cirrhosis or heart failure) associated with iron overload, as the total body iron burden is not excessive. How is hyperferritinemia-cataract syndrome inherited, and what are the chances of passing it to children?::The condition is inherited in an autosomal dominant pattern. This means a person only needs to inherit one copy of the mutated FTL gene from one parent to develop the disorder. If one parent has the condition, there is a 50 percent chance with each pregnancy that their child will inherit the mutation and develop the syndrome. Genetic counseling is often recommended for families with a history of the condition to understand these inheritance risks and to discuss options for genetic testing. Is there a cure for the cataracts associated with this syndrome, and does the condition progress?::There is no cure for the underlying genetic mutation, but the cataracts can be managed surgically. Cataract extraction surgery can restore vision, and patients may require intraocular lens implants. However, because the underlying defect in ferritin regulation persists, new cataracts or other eye issues may develop over time, potentially requiring additional monitoring or interventions. Regular ophthalmologic exams are essential to track the health of the eyes and address any changes in vision promptly.
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.