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.
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?
- megalencephalic leukoencephalopathy with subcortical cysts - caused by mutations in the MLC1 gene
More than 80 mutations in the MLC1 gene have been found to cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. This condition affects brain development and function, resulting in problems with movement and recurrent seizures. Most of the MLC1 gene mutations that cause this condition change single protein building blocks (amino acids) in the MLC1 protein. These changes alter the structure of the MLC1 protein or prevent the cell from producing any protein. It is unknown how a lack of MLC1 protein at astroglial cell junctions impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts type 1.
Where is the MLC1 gene located?
Cytogenetic Location: 22q13.33
Molecular Location on chromosome 22: base pairs 50,059,391 to 50,085,929
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/23209))
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about MLC1?
You and your healthcare professional may find the following resources about MLC1 helpful.
Educational resources - Information pages
- Basic Neurochemistry (sixth edition, 1999): The Blood-Brain Barrier Undergoes Development (http://www.ncbi.nlm.nih.gov/books/NBK28180/)
- Basic Neurochemistry (sixth edition, 1999): Virtually Nothing Can Enter or Leave the Central Nervous System Parenchyma Without Passing Through an Astrocytic Interphase (http://www.ncbi.nlm.nih.gov/books/NBK28217/)
- Molecular Biology of the Cell (fourth edition, 2002): Cell Junctions (http://www.ncbi.nlm.nih.gov/books/NBK26857/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1535)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for MLC1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23209%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28MLC1%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/605908)
Research Resources - Tools for researchers
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=17082)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23209)
What other names do people use for the MLC1 gene or gene products?
- megalencephalic leukoencephalopathy with subcortical cysts 1 gene product
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding MLC1?
blood-brain barrier ;
cell adhesion ;
gene product ;
white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference
- Boor PK, de Groot K, Waisfisz Q, Kamphorst W, Oudejans CB, Powers JM, Pronk JC, Scheper GC, van der Knaap MS. MLC1: a novel protein in distal astroglial processes. J Neuropathol Exp Neurol. 2005 May;64(5):412-9. (http://www.ncbi.nlm.nih.gov/pubmed/15892299?dopt=Abstract)
- Capdevila-Nortes X, López-Hernández T, Apaja PM, López de Heredia M, Sirisi S, Callejo G, Arnedo T, Nunes V, Lukacs GL, Gasull X, Estévez R. Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. Hum Mol Genet. 2013 Nov 1;22(21):4405-16. doi: 10.1093/hmg/ddt290. Epub 2013 Jun 20. (http://www.ncbi.nlm.nih.gov/pubmed/23793458?dopt=Abstract)
- Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, Pronk JC. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Hum Mutat. 2006 Jun;27(6):505-12. (http://www.ncbi.nlm.nih.gov/pubmed/16652334?dopt=Abstract)
- López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, van der Knaap MS, Casquero P, Ciruela F, Ferrer I, Nunes V, Estévez R. Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. Hum Mol Genet. 2011 Aug 15;20(16):3266-77. doi: 10.1093/hmg/ddr238. Epub 2011 May 30. (http://www.ncbi.nlm.nih.gov/pubmed/21624973?dopt=Abstract)
- OMIM: MLC1 GENE (http://omim.org/entry/605908)
- Montagna G, Teijido O, Eymard-Pierre E, Muraki K, Cohen B, Loizzo A, Grosso P, Tedeschi G, Palacín M, Boespflug-Tanguy O, Bertini E, Santorelli FM, Estévez R. Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. Hum Mutat. 2006 Mar;27(3):292. (http://www.ncbi.nlm.nih.gov/pubmed/16470554?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23209)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.