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LZTR1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LZTR1 gene

The LZTR1 gene produces a protein that acts as a tumor suppressor and is involved in the regulation of cellular growth and protein degradation.

Normal Function

The LZTR1 gene provides instructions for making a protein whose exact function is unknown. The LZTR1 protein is made in cells throughout the body and is found in the Golgi apparatus, a structure where newly produced proteins are modified. Studies suggest that the LZTR1 protein may help stabilize this structure. Researchers suspect that this protein may also be associated with the CUL3 ubiquitin ligase complex, which is part of the cell machinery that breaks down (degrades) unneeded proteins.

Based on its role in several tumor types, the LZTR1 protein is thought to act as a tumor suppressor. Tumor suppressors are proteins that keep cells from growing and dividing too rapidly or in an uncontrolled way.

Health Conditions Related to Genetic Changes

Schwannomatosis

More than 50 different mutations in the LZTR1 gene have been found in people with schwannomatosis, a disorder characterized by multiple noncancerous (benign) tumors called schwannomas that grow on nerves. These tumors arise from Schwann cells, which normally form an insulating layer around the nerve.

  • Mutations lead to an altered LZTR1 protein that is less able to control cell growth and division.
  • It appears that LZTR1 mutations alone are not enough to trigger tumor development; additional genetic changes (somatic mutations) acquired during a person's lifetime are likely required.
  • Some individuals with an LZTR1 mutation never develop tumors, a situation known as reduced penetrance.

Noonan syndrome

MedlinePlus Genetics provides information about Noonan syndrome.

Cancers

Mutations in the LZTR1 gene have been found in a type of cancerous (malignant) brain tumor called glioblastoma. These mutations are classified as somatic and are present only in the cells that give rise to the tumor. Scientists believe that somatic changes in the LZTR1 gene, or a loss of this gene, are among the factors that allow certain brain cells to grow and divide uncontrollably.

Other Names for This Gene

  • BTBD29
  • leucine-zipper-like transcriptional regulator 1
  • LZTR-1
  • NS10
  • SWNTS2

Genomic Location

The LZTR1 gene is found on chromosome 22.

Frequently Asked Questions

Penetrance is reduced; estimates suggest 30‑50 % of mutation carriers develop schwannomas, often after age 20. The risk varies with the specific mutation type and family history. Regular MRI surveillance can detect tumors early, even in asymptomatic carriers.
Guidelines typically advise a baseline whole‑body MRI (or MRI of the spine and cranial nerves) at diagnosis, followed by repeat imaging every 1‑2 years, or sooner if new neurological symptoms appear. Annual neurological exams and pain assessments are also advised.
LZTR1 mutations have been linked to an increased risk of certain malignancies, such as gliomas and some leukemias, though the absolute risk remains low. Clinicians may recommend age‑appropriate cancer screening (e.g., colonoscopy, skin exams) and maintain a low threshold for imaging if new symptoms arise.
Some LZTR1 variants cause a form of Noonan syndrome characterized by short stature, facial features, and congenital heart defects, distinct from schwannomatosis‑associated variants. If a patient presents with Noonan features, cardiac evaluation (echocardiogram) and growth monitoring are essential, and genetic counseling should address the dual phenotype possibilities.
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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