EPM2A (NP_001018051, 101 a.a. ~ 199 a.a) partial recombinant protein with GST tag. The sequence is GNGPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRI LPNIWLGSCPRQVEHVTIKLKHELGITAVMNFQTEWDIV
This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants.
Pathway
Disease; Glycogen storage diseases; Metabolism; Myoclonic epilepsy of Lafora
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