Laforin

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

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[1] (CBM20). Its physiological substrate has yet to be identified and the molecular mechanisms in which mutated laforin causes Lafora disease is unknown.