epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Identifiers
Symbol
EPM2A
NCBI gene
7957
HGNC
3413
OMIM
607566
PDB
4RKK
RefSeq
NM_001018041
UniProt
O95278
Other data
Locus
Chr. 6 q24
Search for
Structures
Swiss-model
Domains
InterPro
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.[1] Laforin regulates autophagy via Mammalian target of rapamycin, which is impaired in Lafora disease.[4]
^ abOrtolano S, Vieitez I, Agis-Balboa RC, Spuch C (January 2014). "Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease". Molecular Brain. 7: 7. doi:10.1186/1756-6606-7-7. PMC 3917365. PMID 24472629.
^Ganesh S, Agarwala KL, Ueda K, Akagi T, Shoda K, Usui T, Hashikawa T, Osada H, Delgado-Escueta AV, Yamakawa K (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. doi:10.1093/oxfordjournals.hmg.a018916. PMID 11001928.
^"CAZy - CBM". Archived from the original on 2007-02-25. Retrieved 2007-03-28.
^Aguado C, Sarkar S, Korolchuk VI, Criado O, Vernia S, Boya P, Sanz P, de Córdoba SR, Knecht E, Rubinsztein DC (July 2010). "Laforin, the most common protein mutated in Lafora disease, regulates autophagy". Human Molecular Genetics. 19 (14): 2867–76. doi:10.1093/hmg/ddq190. PMC 2893813. PMID 20453062.
Laforin, encoded by the EPM2A gene, is a phosphatase, with a carbohydrate-binding domain, which is mutated in patients with Lafora disease. It contains...
amount of laforin. Laforin is essential for making the normal structure of a glycogen molecule. When the mutation occurs on the EPM2A gene, laforin protein...
E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin". Proc. Natl. Acad. Sci. U.S.A. 102 (24): 8501–6. doi:10.1073/pnas.0503285102...
on chromosome 6q24 was discovered in 1998 and encodes for the protein laforin. It is responsible for 80% of cases. The EPM2B gene on chromosome 6p22...
Global Information