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The official name of this gene is “megalencephalic leukoencephalopathy with subcortical cysts 1.”
MLC1 is the gene's official symbol. The MLC1 gene is also known by other names, listed below.
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.
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.
Cytogenetic Location: 22q13.33
Molecular Location on chromosome 22: base pairs 50,497,819 to 50,524,357
The MLC1 gene is located on the long (q) arm of chromosome 22 at position 13.33.
More precisely, the MLC1 gene is located from base pair 50,497,819 to base pair 50,524,357 on chromosome 22.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about MLC1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; blood-brain barrier ; cell ; cysts ; gene ; gene product ; leukoencephalopathy ; oligodendrocytes ; protein ; subcortical ; tissue ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.