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NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1

Also known as: EPM2A; EPM2B; MALIN; bA204B7.2

Summary

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).[provided by RefSeq, Mar 2010]

Genomic context

Location:
6p22.3
Sequence:
Chromosome: 6; NC_000006.12 (18120487..18122620, complement)
Total number of exons:
1

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