EPM2A mutants [cytosol]

Stable Identifier
R-HSA-3791352
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Laforin mutants
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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

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

Hum. Mol. Genet. 2003
Participants
members
Participates
as a component of
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
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