Defective EPM2A does not dephosphorylate phosphoglycogen (type 2A disease)

Stable Identifier
R-HSA-3791349
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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).

Literature References
PubMed ID Title Journal Year
21356517 Phosphate incorporation during glycogen synthesis and Lafora disease

Tagliabracci, VS, Heiss, C, Karthik, C, Contreras, CJ, Glushka, J, Ishihara, M, Azadi, P, Hurley, TD, DePaoli-Roach, AA, Roach, PJ

Cell Metab. 2011
9931343 A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

Serratosa, JM, Gómez-Garre, P, Gallardo, ME, Anta, B, de Bernabé, DB, Lindhout, D, Augustijn, PB, Tassinari, CA, Michelucci, R, Malafosse, A, Topcu, M, Grid, D, Dravet, C, Berkovic, SF, de Córdoba, SR

Hum. Mol. Genet. 1999
9771710 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

Minassian, BA, Lee, JR, Herbrick, JA, Huizenga, J, Soder, S, Mungall, AJ, Dunham, I, Gardner, R, Fong, CY, Carpenter, S, Jardim, L, Satishchandra, P, Andermann, E, Snead, OC, Lopes-Cendes, I, Tsui, LC, Delgado-Escueta, AV, Rouleau, GA, Scherer, SW

Nat. Genet. 1998
14532330 Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

Fernández-Sánchez, ME, Criado-García, O, Heath, KE, García-Fojeda, B, Medraño-Fernández, I, Gómez-Garre, P, Sanz, P, Serratosa, JM, Rodríguez de Córdoba, S

Hum. Mol. Genet. 2003
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
carbohydrate phosphatase activity of mutant EPM2A:PPP1R3C:phosphoglycogen-GYG1:GYS1-a tetramer [cytosol]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
glycogen storage disease 2747 glycogenosis
Authored
Reviewed
Created