Bio Background |
This gene encodes a member of the arm-repeat (armadillo)and plakophilin gene families. Plakophilin proteins containnumerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments inthe cytoskeleton. This gene product may regulate the signalingactivity of beta-catenin. Two alternately spliced transcriptsencoding two protein isoforms have been identified. A processedpseudogene with high similarity to this locus has been mapped tochromosome 12p13. |
Bio References |
Fressart, V., et al. Europace 12(6):861-868(2010)Cox, M.G., et al. Circ Arrhythm Electrophysiol 3(2):126-133(2010)Christensen, A.H., et al. Cardiology 115(2):148-154(2010)den Haan, A.D., et al. Circ Cardiovasc Genet 2(5):428-435(2009)Bhuiyan, Z.A., et al. Circ Cardiovasc Genet 2(5):418-427(2009) |