Harmonizome 3.0

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]

EPM2A divergent transcript

From DEPOD Substrates of Phosphatases

substrates of the phosphatase EPM2A from the curated DEPOD Substrates of Phosphatases dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term epm2a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From NURSA Protein-Protein Interactions

interacting proteins for EPM2A from the NURSA Protein-Protein Interactions dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for EPM2A from the Pathway Commons Protein-Protein Interactions dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EPM2A-interacting protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.