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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.
Gene Name: | EPM2A (laforin) interacting protein 1 |
Synonyms: | EPM2AIP1, EPM2A interacting protein 1, EPM2A-interacting protein 1, KIAA0766, Laforin-interacting protein |
Target Sequences: | NM_014805 NP_055620.1 Q7L775 |
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