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The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy.
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Human Polyclonal EPM2AIP1 Primary Antibody for WB - ABIN1881302
Ianzano, Zhao, Minassian, Scherer: Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product. in Genomics 2003
Show all 3 Pubmed References
Human Monoclonal EPM2AIP1 Primary Antibody for ELISA, WB - ABIN564241
Turnbull, Tiberia, Pereira, Zhao, Pencea, Wheeler, Yu, Ivovic, Naranian, Israelian, Draginov, Piliguian, Frankland, Wang, Ackerley, Giacca, Minassian: Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistance. in The Journal of biological chemistry 2013
The -93G>A polymorphism modifies the efficiency of MLH1 (show MLH1 Antibodies)/EPM2AIP1 transcription.
The EPM2AIP1 gene was identified and characterized in a screen for laforin (show EPM2A Antibodies)-interacting proteins with a human brain cDNA library; the specificity of the interaction was confirmed; subcellular colocalization of laforin (show EPM2A Antibodies) and EPM2AIP1 protein was demonstrated
The authors conclude that laforin's principle function is to control glycogen (show GYS1 Antibodies) chain lengths, in a malin (show NHLRC1 Antibodies)-dependent fashion, and that loss of this control underlies Lafora disease.
We show that the absence of Epm2aip1 in mice impairs allosteric activation of GS by glucose 6-phosphate, decreases hepatic glycogen (show GYS1 Antibodies) synthesis, increases liver fat, causes hepatic insulin (show INS Antibodies) resistance, and protects against age-related obesity
The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless.
EPM2A (laforin) interacting protein 1
, EPM2A interacting protein 1
, EPM2A-interacting protein 1
, laforin-interacting protein