Synthetic peptide corresponding to a region within N terminal amino acids 143 - 192(HPLRRLEISP DSSPERAHYT HSDYQYSQRS QAGHTLHHQE SRRAALLVPP) of Human Plakophilin 2.
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13.
Pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem; Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem;
Citations
Publication ()
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