EPM2A mutants

Stable Identifier
R-HSA-3791352
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Synonyms
Laforin mutants
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
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
Disease
Name Identifier Synonyms
glycogen storage disease 2747 glycogenosis