MLC1

The MLC1 gene provides instructions for making a protein that is found in the brain, spleen, and white blood cells (leukocytes). Within the brain, the MLC1 protein is found in specialized cells called astroglial cells, which support and nourish other cells. Some researchers have suggested that astroglial cells play an important role in the functioning of oligodendrocytes, which are specialized cells that surround nerves and are involved in the production and long-term maintenance of myelin. Myelin forms a protective coating around certain nerve cells and ensures the smooth and rapid transmission of nerve impulses. The role of MLC1 protein in astroglial cells, the spleen, and leukocytes is unknown. Some research indicates that the MLC1 protein is involved in transporting molecules across the blood-brain barrier and the brain-cerebrospinal fluid barrier. These barriers protect the brain's delicate nerve tissue by allowing only certain substances to pass into the brain.

megalencephalic leukoencephalopathy with subcortical cysts - caused by mutations in the MLC1 gene

More than 50 mutations in the MLC1 gene have been found to cause megalencephalic leukoencephalopathy with subcortical cysts. Most of these mutations change one of the protein building blocks (amino acids) used to make the MLC1 protein. These changes in amino acids probably alter the structure of the MLC1 protein or prevent the cell from producing any of this protein. Most mutations are specific to each affected family; however, in some geographical regions, common mutations have been identified. It is unknown how a lack of MLC1 protein impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts.