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. It contains a dual specificity phosphatase domain (DSP) and a carbohydrate binding module subtype 20 (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.