HEPACAM - hepatic and glial cell adhesion molecule - Genetics Home Reference

HEPACAM - hepatic and glial cell adhesion molecule - Genetics Home Reference

HEPACAM

On this page:

 

• Name 
• Normal function 
• Genetic changes 
• Gene location 
• Additional information
• Other names 
• About genes 
• Glossary definitions

What is the official name of the HEPACAM gene?

The official name of this gene is “hepatic and glial cell adhesion molecule.”

HEPACAM is the gene's official symbol. The HEPACAM gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the HEPACAM gene?

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.

How are changes in the HEPACAM gene related to health conditions?

megalencephalic leukoencephalopathy with subcortical cysts - caused by mutations in the HEPACAMgene

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.

Where is the HEPACAM gene located?

Cytogenetic Location: 11q24.2

Molecular Location on chromosome 11: base pairs 124,919,192 to 124,936,411

The HEPACAM gene is located on the long (q) arm of chromosome 11 at position 24.2.

More precisely, the HEPACAM gene is located from base pair 124,919,192 to base pair 124,936,411 on chromosome 11.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about HEPACAM?

You and your healthcare professional may find the following resources about HEPACAM helpful.

• Educational resources - Information pages
  Molecular Biology of the Cell (fourth edition, 2002): Cell Junctions
• Gene Reviews - Clinical summary
• Genetic Testing Registry - Repository of genetic test information (1 link)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• PubMed - Recent literature
• OMIM - Genetic disorder catalog
• Research Resources - Tools for researchers (5 links)

What other names do people use for the HEPACAM gene or gene products?

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

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics Education
• Human Genome Project
• Resources for Genetics Researchers

What glossary definitions help with understanding HEPACAM?

adhesion molecule ; cell ; cell adhesion ; cysts ; gene ; glial cell ; hepatic ; leukoencephalopathy ;molecule ; protein ; subcortical

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook