Normal Function
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.
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; 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.
More About This Health ConditionOther Names for This Gene
- KIAA0027
- LVM
- megalencephalic leukoencephalopathy with subcortical cysts 1 gene product
- MLC
- MLC1_HUMAN
- VL
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- 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. doi: 10.1093/jnen/64.5.412. Citation on PubMed
- Capdevila-Nortes X, Lopez-Hernandez T, Apaja PM, Lopez de Heredia M, Sirisi S, Callejo G, Arnedo T, Nunes V, Lukacs GL, Gasull X, Estevez 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. Citation on PubMed
- 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. doi: 10.1002/humu.20332. Citation on PubMed
- Lopez-Hernandez T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernandez-Duenas V, Scheper GC, van der Knaap MS, Casquero P, Ciruela F, Ferrer I, Nunes V, Estevez 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. Citation on PubMed
- Montagna G, Teijido O, Eymard-Pierre E, Muraki K, Cohen B, Loizzo A, Grosso P, Tedeschi G, Palacin M, Boespflug-Tanguy O, Bertini E, Santorelli FM, Estevez R. Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. Hum Mutat. 2006 Mar;27(3):292. doi: 10.1002/humu.9407. Citation on PubMed
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