HEPACAM gene

hepatic and glial cell adhesion molecule

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. The function of GlialCAM at the cell junction is unclear.

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 (or certain other proteins) at neuronal cell junctions impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts.

Mutations in the HEPACAM gene cause two types of megalencephalic leukoencephalopathy with subcortical cysts, 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. The reasons for this improvement are unclear.

Cytogenetic Location: 11q24.2, which is the long (q) arm of chromosome 11 at position 24.2

Molecular Location: base pairs 124,919,244 to 124,936,412 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q24.2, which is the long (q) arm of chromosome 11 at position 24.2
  • FLJ25530
  • glial cell adhesion molecule
  • GlialCAM
  • HECAM_HUMAN
  • hepatocyte and glial cell adhesion molecule
  • hepatocyte cell adhesion molecule