GENETIC ENCYCLOPEDIA
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gene: PKP3

id11187
symbolPKP3
organismHomo sapiens
full nameplakophilin 3
summaryThis 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 protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
variant-disease

GRCh37/hg19 11p15.5(chr11:396937-403880)x1 AND not provided

GRCh37/hg19 11p15.5(chr11:401006-403880)x1 AND not provided

Single allele AND Small for gestational age

GRCh37/hg19 11p15.5(chr11:383855-428582)x3 AND not provided

GRCh37/hg19 11p15.5(chr11:396937-431651)x1 AND not provided

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