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.
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Protein Aliases: EPM2A (laforin) interacting protein 1; EPM2A interacting protein 1; EPM2A-interacting protein 1; Laforin-interacting protein; My007
Gene Aliases: EPM2AIP1; KIAA0766; My007
UniProt ID: (Human) Q7L775
Entrez Gene ID: (Human) 9852
Molecular Function: transcription factor