Gene: NHLRC1

Alternate names for this Gene: EPM2A|EPM2B|MALIN|bA204B7.2

Gene 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).

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: NHL repeat containing E3 ubiquitin protein ligase 1

Type of Gene: protein-coding

rs121917876 in NHLRC1 gene and Lafora Disease PMID 21505799 2011 Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

PMID 18311786 2008 Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

PMID 16021330 2005 Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

PMID 12958597 2003 Mutations in NHLRC1 cause progressive myoclonus epilepsy.

PMID 15781812 2005 Lafora disease due to EPM2B mutations: a clinical and genetic study.

PMID 15930137 2005 Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

PMID 16950819 2006 Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.

PMID 12960212 2003 Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.

PMID 18256682 2008 Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).

PMID 18029386 2008 Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.

PMID 16529633 2006 Clinical and genetic findings in 26 Italian patients with Lafora disease.

PMID 16311711 2006 Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

PMID 19744044 2009 Genetic testing revealed a homozygous missense mutation (c.205C > G, P69A) in the EPM2B (NHLRC1) gene, confirming the diagnosis of progressive myoclonic epilepsy Lafora-type.

PMID 22815132 2012 Deciphering the role of malin in the lafora progressive myoclonus epilepsy.

PMID 20738377 2010 Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.

PMID 18263761 2008 Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.

PMID 16134145 2005 Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.

PMID 25667860 2014 Clinical onset was at the age of 19 years with tonic-clonic seizures, followed by cognitive impairment; EEG was in favor of Lafora disease, and the mutation c.436G>A (a missense mutation substituting aspartic acid in asparagine) in the NHLRC1 gene confirmed this diagnosis.

PMID 17952067 2007 Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.

PMID 16190947 2005 Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation.

PMID 22047982 2012 Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.

rs10949482 in NHLRC1 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 30201983 2018 NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia.