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GPC3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GPC3 gene

The GPC3 gene provides instructions for making glypican 3, a protein that plays a critical role in regulating cell growth and development before birth.

Normal Function

The GPC3 gene provides instructions for making a protein called glypican 3. This protein is one of several glypicans in humans, each of which consists of a core protein attached to long sugar molecules called heparan sulfate chains. Glypicans are anchored to the outer cell membrane, where they interact with a variety of other proteins outside the cell. Glypicans appear to play important roles in development before birth. These proteins are involved in numerous cell functions, including regulating cell growth and division (cell proliferation) and cell survival.

Several studies have found that glypican 3 interacts with other proteins at the surface of cells to restrain cell proliferation. Specifically, glypican 3 blocks (inhibits) a developmental pathway called the hedgehog signaling pathway. This pathway is critical for cell proliferation, cell specialization, and the normal shaping (patterning) of many parts of the body during embryonic development.

Researchers believe that in some cell types, glypican 3 may act as a tumor suppressor, which is a protein that prevents cells from growing and dividing in an uncontrolled way to form a cancerous tumor. Glypican 3 may also cause some types of cells to self-destruct (undergo apoptosis) when they are no longer needed, which can help keep growth in check. Although glypican 3 is known primarily as an inhibitor of cell growth and cell division, in some tissues it appears to have the opposite effect. Research suggests that in certain types of cells, such as cells in the liver, glypican 3 may interact with proteins called growth factors to promote cell growth and cell division.

Health Conditions Related to Genetic Changes

Simpson-Golabi-Behmel syndrome

More than 50 mutations in the GPC3 gene have been identified in people with Simpson-Golabi-Behmel syndrome. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The condition can also be associated with a variety of other birth defects and health problems.

Most of the mutations that cause Simpson-Golabi-Behmel syndrome delete part or all of the GPC3 gene, which prevents cells from producing functional glypican 3. Other mutations insert or delete a small amount of genetic material in the gene, or change one or a few protein building blocks (amino acids) in glypican 3. These mutations change the structure of the protein.

Mutations in the GPC3 gene prevent glypican 3 from inhibiting the hedgehog signaling pathway. The resulting overactivity of this pathway leads to an increased rate of cell growth and division starting before birth. This increased cell proliferation accounts, at least in part, for the overgrowth that occurs in Simpson-Golabi-Behmel syndrome.

Other Names for This Gene

  • DGSX
  • glypican proteoglycan 3
  • glypican-3
  • GPC3_HUMAN
  • GTR2-2
  • Intestinal protein OCI-5
  • MXR7
  • OCI-5
  • SGBS1

Frequently Asked Questions

Glypican 3, the protein produced by the GPC3 gene, is not typically expressed in healthy adult liver tissue but is frequently overexpressed in hepatocellular carcinoma (HCC). Clinicians use serum glypican 3 levels as a biomarker to help distinguish liver cancer from other liver conditions like cirrhosis or hepatitis. It is often used in combination with alpha-fetoprotein (AFP) to improve diagnostic accuracy and to monitor treatment response, as levels often decrease after successful tumor resection or ablation. What is the role of the GPC3 gene in the development of Focal Nodular Hyperplasia (FNH)?::Germline mutations in the GPC3 gene are a known cause of familial Focal Nodular Hyperplasia, a benign liver tumor. In this condition, the mutation leads to a loss of the normal tumor-suppressive function of glypican 3, resulting in the formation of multiple benign nodules in the liver. While these nodules are not cancerous, individuals with this genetic variant require regular monitoring to ensure the lesions do not undergo malignant transformation, which is rare but possible. Does a mutation in the GPC3 gene always lead to cancer?::No, a mutation in the GPC3 gene does not always lead to cancer. While somatic mutations (acquired during life) in GPC3 are common in hepatocellular carcinoma and contribute to uncontrolled cell growth, germline mutations (inherited) are more commonly associated with benign conditions like Focal Nodular Hyperplasia. The clinical outcome depends heavily on the type of mutation, the specific tissue involved, and whether other genetic or environmental factors are present that promote malignant progression. How does glypican 3 interact with the Hedgehog signaling pathway to regulate cell growth?::Glypican 3 acts as an inhibitor of the Hedgehog signaling pathway, which is critical for cell proliferation and specialization during embryonic development. By binding to components of this pathway at the cell surface, glypican 3 restrains excessive cell division. In cancer cells, the loss or alteration of this inhibitory function can lead to uncontrolled activation of the Hedgehog pathway, driving tumor growth and survival. This mechanism is why GPC3 is considered a potential target for therapeutic interventions in liver cancer.
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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