# Epilepsy, progressive myoclonic epilepsy, type 2 gene alpha

> mammalian protein found in Mus musculus

**Wikidata**: [Q21981353](https://www.wikidata.org/wiki/Q21981353)  
**Source**: https://4ort.xyz/entity/epilepsy-progressive-myoclonic-epilepsy-type-2-gene-alpha


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/Q9WUA5)
3. Q20641742
4. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
5. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5)
6. [Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
7. [Epm2a suppresses tumor growth in an immunocompromised host by inhibiting Wnt signaling](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
8. [Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
9. [Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
10. [Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5)
11. [Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
12. [Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
13. [The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
14. [Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
15. [Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
16. [Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
17. [A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9WUA5&geneProductId=UniProtKB:Q9WUA5)
18. [The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
19. [A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
20. [Laforin, the most common protein mutated in Lafora disease, regulates autophagy](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
21. [Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms.](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
22. [Protein Degradation and Quality Control in Cells from Laforin and Malin Knockout Mice](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
23. [Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
24. [Glycogen Phosphomonoester Distribution in Mouse Models of the Progressive Myoclonic Epilepsy, Lafora Disease](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
25. [Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
26. [PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
27. [Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
28. [FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
29. [Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9WUA5)
30. ensembl Release 106