Laforin Explained
| epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) |
| Hgncid: | 3413 |
| Symbol: | EPM2A |
| Entrezgene: | 7957 |
| Omim: | 607566 |
| Refseq: | NM_001018041 |
| Uniprot: | O95278 |
| Pdb: | 4RKK |
| Chromosome: | 6 |
| Arm: | q |
| Band: | 24 |
Laforin, encoded by the EPM2A gene, is a phosphatase, with a carbohydrate-binding domain, which is mutated in patients with Lafora disease.[1] [2] It contains a dual specificity phosphatase domain (DSP) and a carbohydrate binding module subtype 20[3] (CBM20). Its physiological substrate has yet to be identified and the molecular mechanisms in which mutated laforin causes Lafora disease is unknown, though there has been progress made in the study by Ortolano et al. Laforin regulates autophagy via Mammalian target of rapamycin, which is impaired in Lafora disease.[4]
External links
Notes and References
- Ortolano S, Vieitez I, Agis-Balboa RC, Spuch C . Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease . Molecular Brain . 7 . 7 . January 2014 . 24472629 . 3917365 . 10.1186/1756-6606-7-7 . free .
- Ganesh S, Agarwala KL, Ueda K, Akagi T, Shoda K, Usui T, Hashikawa T, Osada H, Delgado-Escueta AV, Yamakawa K . Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes . Human Molecular Genetics . 9 . 15 . 2251–61 . September 2000 . 11001928 . 10.1093/oxfordjournals.hmg.a018916 . free .
- Web site: CAZy - CBM. 2007-03-28. 2007-02-25. https://web.archive.org/web/20070225132146/http://www.cazy.org/fam/acc_CBM.html. dead.
- Aguado C, Sarkar S, Korolchuk VI, Criado O, Vernia S, Boya P, Sanz P, de Córdoba SR, Knecht E, Rubinsztein DC . Laforin, the most common protein mutated in Lafora disease, regulates autophagy . Human Molecular Genetics . 19 . 14 . 2867–76 . July 2010 . 20453062 . 2893813 . 10.1093/hmg/ddq190 .
