| Primary Identifier | IPR042942 | Type | Family |
| Short Name | Laforin |
| description | Laforin (encoded by the EPM2A gene) is a protein phosphatase and one of the two proteins (the other one is malin, a E3-ubiquitin ligase) that is defective in Lafora disease (LD), a progressive form of inherited epilepsy associated with widespread neurodegeneration and the formation of polyglucosan bodies in the neurons []. Laforin and malin form a functional complex, in which laforin could recognize and recruit putative substrates to be ubiquitinated by malin for degradation. The Laforin-malin complex regulates glycogen synthesis through targeting R5/PTG (Protein Targeting to Glycogen) for inactivation, most probably by proteolysis. Moreover, the Laforin-Malin complex is also involved in different pathways, such as intracellular protein degradation, oxidative stress, and the endoplasmic reticulum unfolded protein response []. It contains a carbohydrate binding module (CBM) at the N terminus and a dual specificity phosphatase domain (DSP) at the C terminus. The structure of Laforin has been revealed []. |
