| Dataset | GeneRIF Biological Term Annotations |
| Category | structural or functional annotations |
| Type | biological term |
| Description | 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] (NCBI Entrez Gene Database, 7957) |
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2 genes co-occuring with the biological term epm2a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
