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TERC gene

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

TERC gene

The TERC gene provides instructions for the hTR component of telomerase, an enzyme that maintains the protective caps at the ends of chromosomes known as telomeres.

Overview

The TERC gene provides instructions for making the hTR component of the enzyme telomerase. Telomerase maintains telomeres—repeated DNA segments at the ends of chromosomes that protect them from degradation or sticking together. In most cells, telomeres shorten with each division, eventually triggering the cell to stop dividing or self-destruct (apoptosis). Telomerase counteracts this by adding DNA segments to chromosome ends. While telomerase is highly active in rapidly dividing cells (such as bone marrow or fetal cells) and cancer cells, it is generally undetectable or low in most other cell types.

Health Conditions Related to Genetic Changes

Dyskeratosis congenita

Mutations in the TERC gene lead to telomerase dysfunction and impaired telomere maintenance. This results in:

  • Physical features: Changes in skin pigmentation, oral leukoplakia (white patches in the mouth), and nail dystrophy.
  • Systemic risks: Increased risk of cancer, pulmonary fibrosis, and aplastic anemia (bone marrow failure).
  • Cellular impact: Rapidly dividing cells, such as those in the skin, hair follicles, and bone marrow, are particularly vulnerable to the effects of shortened telomeres.

Idiopathic pulmonary fibrosis

Mutations in the TERC gene are associated with idiopathic pulmonary fibrosis, a condition where scar tissue builds up in the lungs. Shortened telomeres caused by telomerase deficiency likely trigger premature cell death in the lining of the lungs. This condition is complex and may be triggered by a combination of genetic predisposition and environmental factors like cigarette smoke or dust.

Other disorders

TERC gene mutations have also been identified in cases of isolated aplastic anemia, which may represent a late-onset form of dyskeratosis congenita with milder physical symptoms.

Other Names for This Gene

  • hTERC
  • hTR
  • SCARNA19
  • small Cajal body-specific RNA 19
  • telomerase RNA
  • telomerase RNA component gene
  • TR
  • TRC3

Frequently Asked Questions

Short telomeres suggest telomere biology disorder but do not prove a TERC mutation. Definitive diagnosis requires molecular testing of the TERC gene (and sometimes other telomerase‑related genes) to identify pathogenic variants. Your clinician may also assess family history and clinical features before ordering genetic sequencing.
First‑degree relatives (parents, siblings, children) should be offered targeted genetic testing for the known family variant. Those who test positive should have baseline telomere length measured and undergo periodic evaluation for bone‑marrow failure, pulmonary fibrosis, and mucocutaneous signs. Even mutation‑negative relatives may benefit from clinical monitoring if they have borderline telomere shortening.
Management depends on severity. Androgen therapy (e.g., danazol) can modestly increase telomerase activity and improve blood counts in some patients. For severe aplastic anemia, hematopoietic stem‑cell transplantation (HSCT) is the definitive therapy, but donor selection is critical because the underlying telomere defect can affect transplant outcomes. Reduced‑intensity conditioning regimens are preferred to limit organ toxicity.
Yes. Smoking cessation is essential, as tobacco accelerates telomere attrition. Avoiding occupational dusts, maintaining a healthy weight, and engaging in regular, low‑impact aerobic exercise can preserve lung function. Some clinicians also prescribe antifibrotic agents (pirfenidone or nintedanib) off‑label for telomere‑related fibrosis, though evidence is still emerging.
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.