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

TERT gene

The TERT gene provides instructions for the hTERT component of telomerase, which is essential for maintaining telomere length and protecting chromosome integrity.

Overview

The TERT gene provides instructions for making the hTERT component of the enzyme telomerase. Working alongside the hTR component (produced by the TERC gene), hTERT adds repeated DNA segments to the ends of chromosomes, known as telomeres. Telomeres protect chromosomes from degradation. As cells divide, telomeres naturally shorten; telomerase activity prevents this shortening in rapidly dividing cells. Abnormally high telomerase activity is a hallmark of most cancer cells, allowing them to divide uncontrollably.

Health Conditions Related to Genetic Changes

Dyskeratosis congenita

Mutations in the TERT gene cause the hTERT protein to become unstable or dysfunctional, leading to shortened telomeres. This results in symptoms such as nail dystrophy, oral leukoplakia, and skin pigmentation changes, as well as an increased risk of bone marrow failure, pulmonary fibrosis, and cancer.

Idiopathic pulmonary fibrosis

Mutations in the TERT gene are linked to idiopathic pulmonary fibrosis. The resulting telomerase deficiency causes telomeres to shorten prematurely, leading to lung cell damage and scarring. This condition is often influenced by both genetic factors and environmental exposures.

Cancers and Other Disorders

  • Melanoma and Acute Myeloid Leukemia: Mutations in the TERT gene are associated with an increased risk of these cancers, likely due to impaired telomere maintenance leading to DNA damage and uncontrolled cell growth.
  • Isolated Aplastic Anemia: Mutations can lead to bone marrow failure without the other physical features of dyskeratosis congenita, potentially representing a late-onset form of the disorder.

Other Names for This Gene

  • EST2
  • hEST2
  • TCS1
  • telomerase catalytic subunit
  • telomerase-associated protein 2
  • TERT_HUMAN
  • TP2
  • TRT

Frequently Asked Questions

TERT gene mutations can be inherited in different patterns, often autosomal dominant, meaning only one copy of the mutated gene is needed to increase disease risk. If you have a TERT mutation, there is a 50% chance your children could inherit it. It's important to discuss your family history with a genetic counselor. They can help determine the specific inheritance pattern in your family and assess the risk for other family members, including siblings and parents, who may also carry the mutation and be at risk for related health conditions.
TERT gene mutations can lead to several serious conditions by affecting telomere length. You should be aware of dyskeratosis congenita, idiopathic pulmonary fibrosis, and an increased risk of certain cancers like melanoma and acute myeloid leukemia, as well as isolated aplastic anemia. Early warning signs for dyskeratosis congenita can include unusual nail dystrophy, white patches in the mouth (oral leukoplakia), and changes in skin pigmentation. For aplastic anemia, watch for signs of bone marrow failure such as unusual fatigue, frequent infections, or easy bruising/bleeding. For pulmonary fibrosis, persistent shortness of breath or a chronic cough are important signs. Regular medical check-ups and prompt reporting of new or worsening symptoms to your doctor are crucial.
Yes, managing health with a TERT gene mutation involves proactive screening and lifestyle considerations. Regular monitoring for bone marrow function (blood counts), lung function tests, and skin checks for melanoma are often recommended. Avoiding environmental exposures that can exacerbate lung conditions, such as smoking or certain occupational dusts, is also important, especially for those at risk of pulmonary fibrosis. A healthy lifestyle, including a balanced diet and regular exercise, can support overall health, but specific medical surveillance tailored to your individual risk profile is key and should be discussed with your healthcare team.
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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