Official Full Name
NHL repeat containing E3 ubiquitin protein ligase 1
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded;protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as;progressive myoclonic epilepsy type 2 (EPM2).
NHLRC1; NHL repeat containing 1; E3 ubiquitin-protein ligase NHLRC1; bA204B7.2; epilepsy; progressive myoclonus type 2B; EPM2B; malin; MGC119265; EPM2A; MGC119262; MGC119264; NHL repeat containing protein 1; NHL repeat-containing protein 1; NHLC1_HUMAN; NHLRC 1