Variants
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PKP2 Gene

plakophilin 2

ALIAS SYMBOLS

  • None

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Description

The PKP2 gene provides instructions for making a protein called plakophilin 2. This protein is found primarily in cells of the myocardium, which is the muscular wall of the heart. Within these cells, plakophilin 2 is one of several proteins that make up structures called desmosomes. These structures form junctions that attach cells to one another. Desmosomes provide strength to the myocardium and are involved in signaling between neighboring cells.

CHROMOSOME

12


LOCATION

p11.21


LOCUS TYPE

gene with protein product

VARIANTS

962

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:9024

  • NCBI

    5318

  • OMIM

    602861

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