NHLRC1, Official Symbol NHLRC1provided by HGNC Official Full Name NHL repeat containing E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:21576 See related Ensembl:ENSG00000187566 MIM:608072; AllianceGenome:HGNC:21576 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Orthologs mouse all