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

GRN gene

The GRN gene provides instructions for making the protein progranulin, which is essential for cell growth, survival, and the regulation of inflammation.

Normal Function

The GRN gene provides instructions for making a protein called progranulin. This protein is primarily found in the membrane of cellular structures called lysosomes, which are specialized compartments that digest and recycle materials. Within lysosomes, progranulin can be cut (cleaved) into smaller proteins, known as granulins, which are thought to function similar to progranulin.

Progranulin is found in tissues throughout the body, but it is most active in cells that are dividing rapidly, such as skin cells (fibroblasts), immune system cells, and certain brain cells. This protein helps regulate the growth, division, and survival of these cells. It also plays important roles in early embryonic development, wound healing, and the body's immune response to injury (inflammation). Progranulin is active in several types of brain cells and appears to be critical for the survival of nerve cells (neurons).

Health Conditions Related to Genetic Changes

CLN11 disease

At least eight mutations in the GRN gene have been found to cause CLN11 disease. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function that typically begins in adolescence or early adulthood.

Most GRN gene mutations that cause CLN11 disease disrupt how the gene's information is spliced together to make the blueprint for producing the progranulin protein. As a result, there is a complete loss of functional progranulin protein. This lack of progranulin leads to the death of nerve cells in the brain, likely involving impaired function of lysosomes. Unlike in GRN-related frontotemporal lobar degeneration, people with CLN11 disease do not appear to have a buildup of the TDP-43 protein in their brain cells.

GRN-related frontotemporal lobar degeneration

More than 65 mutations in the GRN gene have been identified in people with GRN-related frontotemporal lobar degeneration. This condition is a progressive brain disorder that can affect behavior, language, and movement, with symptoms usually becoming noticeable in a person's fifties or sixties.

The most common GRN gene mutation, Arg493Ter (R493*), creates a premature stop signal in the instructions for making progranulin. Most mutations associated with this condition prevent any protein from being produced from one copy of the GRN gene, resulting in cells making only half the usual amount of progranulin. In rare cases, individuals have mutations in both copies of the gene, but each mutation still allows for some functional protein to be produced, totaling about half the usual amount.

This disorder is characterized by the buildup of a protein called TAR DNA-binding protein 43 (TDP-43) in certain brain cells. These protein clumps (aggregates) may interfere with cell functions and lead to cell death. The features of the disorder result from the gradual loss of neurons in the frontal and temporal lobes, which are responsible for reasoning, planning, judgment, problem-solving, hearing, speech, memory, and emotion.

Other Names for This Gene

  • acrogranin
  • CLN11
  • GEP
  • GP88
  • granulin
  • granulin-epithelin
  • granulins
  • granulins precursor
  • GRN_HUMAN
  • PC cell-derived growth factor
  • PCDGF
  • PEPI
  • PGRN
  • proepithelin
  • progranulin

Frequently Asked Questions

Currently, there is no cure, but supportive therapies such as antiepileptic drugs, physical therapy, and vision aids can improve quality of life. Experimental approaches include gene therapy to restore progranulin expression and antisense oligonucleotides to correct splicing defects. Clinical trials are ongoing, and patients should be evaluated for eligibility.
Because CLN11 is inherited in an autosomal recessive pattern, each parent is typically a carrier. Carrier testing for at-risk relatives and prenatal testing (amniocentesis or chorionic villus sampling) can identify affected fetuses. Preimplantation genetic diagnosis (PGD) with in‑vitro fertilization offers another option to avoid transmission. Genetic counseling can help families understand recurrence risks and reproductive choices.
Diagnosis starts with a neurological evaluation and imaging (MRI) to look for characteristic brain changes. A lumbar puncture may show elevated protein. Definitive diagnosis requires genetic testing—usually a targeted GRN gene panel or whole‑exome sequencing—to identify pathogenic variants that disrupt splicing or lead to loss of progranulin. Confirmation of reduced progranulin levels in blood or cerebrospinal fluid can support the diagnosis.
Parents may notice a sudden onset of seizures, especially in late childhood or adolescence, followed by gradual vision loss and balance problems. Mild speech delays or behavioral changes can also appear early. If seizures are refractory to standard antiepileptic drugs, CLN11 should be considered.
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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