Your search for "epm2a" returned 688 TaqMan® SNP Genotyping Assays
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
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, Jul 2008]
EPM2, EPM2A, MELF, TG(TCRAK,TCRBK)TG-BFLV, TG-B
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