Gene Symbol | EPM2A |
Entrez Gene ID | 7957 |
Full Name | EPM2A, laforin glucan phosphatase |
Synonyms | EPM2,MELF |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3) |