Western blot analysis of EPM2A (arrow) using rabbit EPM2A polyclonal antibody (Cat # PAB3106). 293 cell lysates (2 ug/lane) either nontransfected (Lane 1) or transiently transfected with the EPM2A gene (Lane 2) (Origene Technologies).
Formalin-fixed and paraffin-embedded human skeletal muscle tissue reacted with EPM2A polyclonal antibody (Cat # PAB3106) , which was peroxidase-conjugated to the secondary antibody, followed by DAB staining. This data demonstrates the use of this antibody for immunohistochemistry; clinical relevance has not been evaluated.
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. [provided by RefSeq
OTTHUMP00000017360,epilepsy, progressive myoclonus type 2, Lafora disease (laforin),laforin