Laforin is encoded bt the EMP2A gene and plays a critical role in the survival of neurons in the brain. Laforin is also expressed in many other cells throughout the body and has multiple functions. 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.
Mutations in the EPM2A gene lead to the major features of Lafora progressive myoclonus epilepsy. Additionally, laforin may act as a tumor suppressor protein.
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