4 Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin) (EPM2A) ELISA Kits from 1 manufacturers are available on www.antibodies-online.com.
EPM2A Antigen Profile
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.
Alternative names and synonyms associated with EPM2A