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Reviewed March 2015
What is the official name of the MLC1 gene?
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.
Read more about gene names and symbols on the About page.
What is the normal function of the MLC1 gene?
The MLC1 gene provides instructions for making a protein that is found primarily in the brain but also in the spleen and white blood cells (leukocytes). Within the brain, the MLC1 protein is found in astroglial cells, which are a specialized form of brain cells called glial cells. Glial cells protect and maintain other nerve cells (neurons). The MLC1 protein functions at junctions that connect neighboring astroglial cells. The role of the MLC1 protein at the cell junction is unknown, but research suggests that it may control the flow of fluids into cells or the strength of cells' attachment to one another (cell adhesion). Studies indicate that the MLC1 protein may be 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.
How are changes in the MLC1 gene related to health conditions?
Where is the MLC1 gene located?
Cytogenetic Location: 22q13.33
Molecular Location on chromosome 22: base pairs 50,059,391 to 50,085,929
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 50,059,391 to base pair 50,085,929 on chromosome 22.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about MLC1?
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.
What other names do people use for the MLC1 gene or gene products?
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.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding MLC1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)