MLC1 gene
The MLC1 gene provides instructions for a protein found primarily in the brain that is essential for maintaining the health and function of astroglial cells.
Normal Function
The MLC1 gene provides instructions for making a protein found primarily in the brain, though it is also present in the spleen and white blood cells (leukocytes). Within the brain, the MLC1 protein is located in astroglial cells, a specialized type of glial cell that protects and maintains neurons.
The MLC1 protein functions at the junctions connecting neighboring astroglial cells. While its exact role is not fully understood, research suggests it may control the flow of fluids into cells or regulate the strength of cell-to-cell attachment (cell adhesion). Additionally, studies indicate that the MLC1 protein may be involved in transporting molecules across the blood-brain barrier and the brain-cerebrospinal fluid barrier, which protect the brain by strictly regulating the substances that enter it.
Health Conditions Related to Genetic Changes
Megalencephalic leukoencephalopathy with subcortical cysts
More than 80 mutations in the MLC1 gene have been found to cause megalencephalic leukoencephalopathy with subcortical cysts type 1, which accounts for 75 percent of all cases of this condition. This disorder affects brain development and function, leading to:
- Problems with movement
- Recurrent seizures
Most mutations associated with this condition change single amino acids in the MLC1 protein, altering its structure or preventing the cell from producing the protein entirely. It remains unknown how the lack of MLC1 protein at astroglial cell junctions specifically impairs brain development to cause these symptoms.
Other Names for This Gene
- KIAA0027
- LVM
- megalencephalic leukoencephalopathy with subcortical cysts 1 gene product
- MLC
- MLC1_HUMAN
- VL