Laforin

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Identifiers
Symbol EPM2A
Entrez 7957
HUGO 3413
OMIM 607566
PDB 4RKK
RefSeq NM_001018041
UniProt O95278
Other data
Locus Chr. 6 q24

Laforin, encoded by the EPM2A gene, is a phosphatase, with a carbohydate-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.[1] Laforin regulates autophagy via Mammalian target of rapamycin, which is impaired in Lafora disease.[4]

References

  1. 1 2 Ortolano, S; Vieitez, I; Agis-Balboa, RC; Spuch, C (28 January 2014). "Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease.". Molecular brain. 7: 7. PMC 3917365 Freely accessible. PMID 24472629. doi:10.1186/1756-6606-7-7.
  2. ↑ Ganesh, S; Agarwala, KL; Ueda, K; Akagi, T; Shoda, K; Usui, T; Hashikawa, T; Osada, H; Delgado-Escueta, AV; Yamakawa, K (22 September 2000). "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. PMID 11001928. doi:10.1093/oxfordjournals.hmg.a018916.
  3. ↑ "CAZy - CBM".
  4. ↑ Aguado, C; Sarkar, S; Korolchuk, VI; Criado, O; Vernia, S; Boya, P; Sanz, P; de Córdoba, SR; Knecht, E; Rubinsztein, DC (15 July 2010). "Laforin, the most common protein mutated in Lafora disease, regulates autophagy.". Human Molecular Genetics. 19 (14): 2867–76. PMC 2893813 Freely accessible. PMID 20453062. doi:10.1093/hmg/ddq190.


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