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The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. Additionally we are shipping EPM2A (Laforin) Interacting Protein 1 Antibodies (96) and EPM2A (Laforin) Interacting Protein 1 Kits (4) and many more products for this protein.
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The -93G>A polymorphism modifies the efficiency of MLH1 (show MLH1 Proteins)/EPM2AIP1 transcription.
The EPM2AIP1 gene was identified and characterized in a screen for laforin (show EPM2A Proteins)-interacting proteins with a human brain cDNA library; the specificity of the interaction was confirmed; subcellular colocalization of laforin (show EPM2A Proteins) and EPM2AIP1 protein was demonstrated
The authors conclude that laforin's principle function is to control glycogen (show GYS1 Proteins) chain lengths, in a malin (show NHLRC1 Proteins)-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 Proteins) synthesis, increases liver fat, causes hepatic insulin (show INS Proteins) 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