XB-GENEPAGE-965637
???displayGene.symbol???:
epm2a
???displayGene.name???:
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
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(
Nomenclature history )
???displayGene.geneFunction???
Dual specificity phosphatase
AI Protein Function
:
epm2a encodes a dual‑specificity phosphatase that dephosphorylates glycogen‑associated phosphates and participates in glycogen metabolism; the protein localizes to the cytoplasm and nucleus, associates...[+]
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Diseases:
Disease Ontology:
Lafora disease
MIM:
MYOCLONIC EPILEPSY OF LAFORA 1; MELF1
External Links:
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