The EPM2A gene provides instructions for making a protein called laforin. Although this protein is active in cells throughout the body, it appears to play a critical role in the survival of nerve cells (neurons) in the brain.
Studies suggest that laforin has multiple functions within cells. To carry out these functions, laforin interacts with several other proteins, including malin (which is produced from the NHLRC1 gene). These proteins are part of complex networks that transmit chemical signals and break down unneeded or abnormal proteins. Additionally, laforin may act as a tumor suppressor protein, which means that it keeps cells from growing and dividing in an uncontrolled way.
Laforin and malin likely play a critical role in regulating the production of a complex sugar called glycogen. Glycogen is a major source of stored energy in the body. The body stores this sugar in the liver and muscles, breaking it down when it is needed for fuel. Researchers believe that laforin and malin may prevent a potentially damaging buildup of glycogen in tissues that do not normally store this molecule, such as those of the nervous system.
Other Names
epilepsy, progressive myoclonus type 2, Lafora disease (laforin); epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); EPM2; EPM2A_HUMAN; laforin; LD; LDE; MELF
Related Genetics Topics
Identifiers
- NCBI Gene: 7957
- OMIM: 607566
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
