EPM2A-interacting protein 1 (EPM2AIP1)

EPM2A-interacting protein 1 (EPM2AIP1) is a ubiquitously expressed human protein first identified as a direct binding partner of laforin, encoded by the EPM2A gene, through yeast two-hybrid screening and confirmed by coimmunoprecipitation[1][2]. EPM2AIP1 is encoded by a single-exon gene located at chromosome 3p22.1 and lacks homology to other known proteins, with no obvious structural motifs[2]. Its physiological function remains incompletely defined; however, it participates in a transcriptional regulatory complex with MLH1, with joint modulation of expression influenced by promoter polymorphisms—implicated in some colorectal and endometrial cancers due to loss-of-function or epigenetic silencing[1]. Functionally, EPM2AIP1 associates with glycogen synthase, influencing metabolic homeostasis by regulating glycogen synthesis and hepatic insulin sensitivity[1]. In the context of Lafora disease, a neurodegenerative disorder characterized by abnormal glycogen (polyglucosan) accumulation, EPM2AIP1 localizes to polyglucosan bodies and is implicated in the cellular response to their formation[1][2]. No drugs or small molecules are known to directly target this protein, and it is not recognized as a biomarker or therapeutic target at present[1][2][5].

Other names

KIAA0766My007FLJ11207Laforin-interacting protein 1EPM2A (laforin) interacting protein 1

Not established