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Publication : Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.

First Author  Ianzano L Year  2003
Journal  Genomics Volume  81
Issue  6 Pages  579-87
PubMed ID  12782127 Mgi Jnum  J:91625
Mgi Id  MGI:3047682 Doi  10.1016/s0888-7543(03)00094-6
Citation  Ianzano L, et al. (2003) Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product. Genomics 81(6):579-87
abstractText  We have identified an interacting partner protein (encoded by the human EPM2AIP1 gene (approved symbol)) for laforin, the product of the EPM2A gene, which is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The EPM2AIP1 gene was identified in a screen for laforin-interacting proteins with a human brain cDNA library using the yeast two-hybrid system. The specificity of the interaction was confirmed by coimmunoprecipitation of in vivo-transfected protein and by using EPM2A deletion constructs. Subcellular colocalization of laforin and EPM2AIP1 protein was also demonstrated. The human EPM2AIP1 gene, corresponding to the KIAA0766 cDNA clone in the databases, was characterized and shown, like EPM2A, to be ubiquitously expressed. The gene, which comprises one large exon 1824 nucleotides in length and has alternative 3' untranslated regions, maps to human chromosome 3p22.1. The function is currently not known and extensive analyses do not reveal any homology to other proteins or any obvious structural motifs. Because genetic heterogeneity in Lafora disease has been described, mutational analysis of the EPM2AIP1 gene was performed on non-EPM2A patients, but no mutations were found. The identification of this first binding partner for laforin promises to be an important step toward unraveling the underlying pathogenesis of this severest form of teenage-onset epilepsy.
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