rs1004536865
This variant is located in the PKP3 gene.
▶ClinVar annotation
About PKP3
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 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]
View all PKP3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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