Laforin

Laforin

protein
Name=epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
caption=


width=
HGNCid=3413
Symbol=EPM2A
AltSymbols=
EntrezGene=7957
OMIM=607566
RefSeq=NM_001018041
UniProt=O95278
PDB=
ECnumber=
Chromosome=6
Arm=q
Band=24
LocusSupplementaryData=

Laforin, encoded by the "EPM2A" gene, is a protein mutated in patients with Lafora disease. It contains a dual specificity phosphatase domain (DSP) and a carbohydrate binding module subtype 20 [http://www.cazy.org/fam/acc_CBM.html] (CBM20). Its physiological substrate has yet to be identified and the molecular mechanisms in which mutated laforin causes Lafora disease is unknown.


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