NCBI Description of NHLRC1
|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).|
Community Annotation of NHLRC1 Add / Edit NHLRC1: Annotations
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