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PKP1

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 be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Group enriched (Suprabasal keratinocytes, Squamous epithelial cells, Basal keratinocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (HaCaT, HBEC3-KT, hTCEpi, hTERT-HME1, PC-3)

Molecular function

Developmental protein

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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