Laforin is involved in the regulation of glycogen metabolism

What is it about?

Progressive myoclonus epilepsy of Lafora type (LD) is a fatal disorder characterized by the presence of progressive neurological deterioration, myoclonus, epilepsy and polyglucosan intracellular inclusion bodies, called Lafora bodies. Genetic analysis localized EPM2A, a major gene for LD, to chromosome 6q24. EPM2A encodes the protein called laforin. Our results place laforin in the context of a multiprotein complex associated with intracellular glycogen particles through its interaction with the glycogen targeting regulatory subunit R5 of protein phosphatase 1, reinforcing the concept that laforin is involved in the regulation of glycogen metabolism.

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