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

FUS gene

The FUS gene provides instructions for making a protein involved in essential cellular processes, including DNA repair and the regulation of protein production.

Normal Function

The FUS gene provides instructions for making a protein that is found within the cell nucleus in most tissues and is involved in many of the steps of protein production.

The FUS protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. The FUS protein is also involved in processing molecules called messenger RNA (mRNA), which serve as the genetic blueprints for making proteins. By cutting and rearranging mRNA molecules in different ways, the FUS protein controls the production of different versions of certain proteins. This process is known as alternative splicing. Once the FUS protein processes the mRNA, it transports the mRNA out of the nucleus where it gets taken up by other cell structures to be further processed into a mature protein. The FUS protein also helps repair errors in DNA, which prevents cells from accumulating genetic damage.

Health Conditions Related to Genetic Changes

Amyotrophic lateral sclerosis

At least 85 mutations in the FUS gene have been found to cause amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement. Most of these mutations change single protein building blocks in the FUS protein and often affect the region of the protein involved in DNA binding and mRNA processing.

  • These mutations may interfere with the transport of mRNA out of the nucleus of cells.
  • As a result, FUS protein and mRNA are trapped within cells and likely form clumps (aggregates), which have been found in nerve cells that control muscle movement (motor neurons) in some people with ALS.
  • People with ALS caused by mutations in the FUS gene tend to develop the disease at a younger age and have a decreased life expectancy compared with individuals who have sporadic ALS or ALS caused by mutations in other genes.

Rarely, people with ALS caused by FUS gene mutations also develop a condition called frontotemporal dementia (FTD), a progressive brain disorder that affects personality, behavior, and language. Individuals who develop both conditions are diagnosed as having ALS-FTD.

Ewing sarcoma

MedlinePlus Genetics provides information about Ewing sarcoma.

Cancers

Specific mutations involving the FUS gene are involved in several types of cancer. These mutations are acquired during a person's lifetime and are present only in the tumor cells; this type of genetic change is called a somatic mutation and is not inherited.

  • Soft tissue sarcomas: Tumors that develop in bones or in soft tissues such as nerves or cartilage.
  • Myxoid liposarcomas: Cancers that occur in fatty tissues of the body.
  • Acute myeloid leukemia (AML): Cancer of the blood-forming cells in the bone marrow.

The genetic changes associated with these cancers are rearrangements (translocations) of genetic material between chromosome 16 and other chromosomes. These translocations break chromosome 16 in the middle of the FUS gene and fuse it with another gene, creating a fusion gene. This can promote uncontrolled cell growth, leading to cancer.

Other Names for This Gene

  • ALS6
  • ETM4
  • FUS1
  • FUS_HUMAN
  • fused in sarcoma
  • heterogeneous nuclear ribonucleoprotein P2
  • hnRNP-P2
  • HNRNPP2
  • oncogene FUS
  • oncogene TLS
  • POMP75
  • RNA-binding protein FUS
  • TLS
  • translocated in liposarcoma protein

Frequently Asked Questions

Early symptoms often involve subtle muscle twitching (fasciculations), weakness that starts in one limb, slurred speech, or difficulty swallowing. These signs can appear in the 30s or 40s for FUS‑associated ALS, earlier than the average age of onset for sporadic cases.
Diagnosis involves a blood or saliva sample for DNA sequencing of the FUS gene. Identifying a pathogenic variant confirms a genetic form of ALS, which may influence eligibility for clinical trials and helps guide genetic counseling for family members. It does not change the core ALS treatment, which remains supportive and symptom‑focused.
FUS mutations are inherited in an autosomal dominant manner. If you carry a pathogenic variant, each child has a 50 % chance of inheriting it. However, not all carriers develop ALS, and age of onset can vary widely, so family members should be monitored for early symptoms.
Regular, moderate exercise can maintain muscle strength and reduce fatigue. Speech and swallowing therapy can preserve communication and nutrition. Respiratory support, such as non‑invasive ventilation, can prolong life and improve comfort. A multidisciplinary team—including neurologists, physiatrists, dietitians, and occupational therapists—helps tailor interventions to each patient’s needs.
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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