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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: EPM2A (laforin) interacting protein 1; EPM2A-interacting protein 1; Laforin-interacting protein
基因别名: EPM2AIP1; KIAA0766; My007
UniProt ID: (Human) Q7L775
Entrez Gene ID: (Human) 9852