Reaction: Defective EPM2A does not dephosphorylate phosphoglycogen (type 2A disease)
- in pathway: Myoclonic epilepsy of Lafora
EPM2A (laforin) associated with cytosolic liver- and muscle-form glycogen granules normally catalyzes the hydrolytic removal of the small numbers of phosphate groups incorporated into glycogen (Minassian et al. 1998, Serratosa et al. 1999, Tagliabracci et al. 2011). Defects in EMP2A (laforin) are the cause of the commonest form of Lafora disease. The three missense mutant forms of EPM2A (laforin) annotated here are examples of the disease-associated EPM2A alleles that have been described (Fernandez-Sanchez et al. 2003).
Reaction - small molecule participants:
H2O [cytosol]
Reactome.org reaction link: R-HSA-3791349
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Reaction input - small molecules:
water
Reaction output - small molecules:
Reactome.org link: R-HSA-3791349