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

HEPACAM gene

The HEPACAM gene produces a protein essential for cell adhesion and transport in the liver and brain, with mutations linked to megalencephalic leukoencephalopathy with subcortical cysts.

Normal Function

The HEPACAM gene provides instructions for making a protein called GlialCAM. This protein is found in liver cells and certain brain cells known as glial cells.

  • In liver cells, GlialCAM plays a role in the attachment of cells to one another (adhesion) and cell movement.
  • In glial cells, GlialCAM attaches (binds) to other GlialCAM proteins or to other proteins called MLC1 and ClC-2. GlialCAM ensures that these proteins are transported to junctions that connect neighboring glial cells.

Health Conditions Related to Genetic Changes

Megalencephalic leukoencephalopathy with subcortical cysts

At least 20 mutations in the HEPACAM gene have been found to cause megalencephalic leukoencephalopathy with subcortical cysts. This condition affects brain development and function, resulting in problems with movement and recurrent seizures.

HEPACAM gene mutations lead to a protein that is unable to correctly transport proteins to the cell junction. It is unknown how a lack of functional GlialCAM protein at neuronal cell junctions impairs brain development and function.

Mutations in the HEPACAM gene cause two types of this condition, type 2A and type 2B; together, these types account for 20 percent of all cases. A major difference between the two types is that the signs and symptoms of type 2B improve over time.

Other Names for This Gene

  • FLJ25530
  • glial cell adhesion molecule
  • GlialCAM
  • HECAM_HUMAN
  • hepatocyte and glial cell adhesion molecule
  • hepatocyte cell adhesion molecule

Frequently Asked Questions

The primary distinction lies in the disease trajectory. In type 2A, symptoms typically progress steadily, leading to significant motor and cognitive decline. In contrast, type 2B is characterized by a more favorable prognosis where signs and symptoms often stabilize or even improve over time, allowing for better long-term functional outcomes compared to the progressive nature of type 2A.
Mutations in the HEPACAM gene result in a defective GlialCAM protein that cannot properly transport other essential proteins, such as MLC1 and ClC-2, to the junctions connecting neighboring glial cells. This failure disrupts the structural and functional integrity of these cell junctions, which is critical for maintaining the health of the brain's white matter and preventing the development of subcortical cysts.
Mutations in the HEPACAM gene account for approximately 20 percent of all cases of megalencephalic leukoencephalopathy with subcortical cysts. These cases are classified as type 2, encompassing both the 2A and 2B subtypes, while the remaining cases are typically associated with mutations in other genes such as MLC1 or CLCN2.
Standard newborn screening programs generally do not include specific genetic testing for HEPACAM mutations. Diagnosis is usually established through clinical evaluation, brain imaging that reveals characteristic subcortical cysts and white matter changes, and subsequent confirmatory genetic testing to identify specific variants in the HEPACAM gene.
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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