Plakophilin-1 (PKP1)

Plakophilin-1 is an armadillo repeat-containing protein localized to both desmosomes and the nucleus, encoded by the PKP1 gene. It is essential for the structural integrity of desmosomal plaques, mediating cell-cell adhesion by linking cadherins (e.g., desmoglein 1) to intermediate filaments (e.g., keratins). Plakophilin-1 plays a pivotal role in desmosome assembly, keratinocyte differentiation, and epidermal morphogenesis. Mutations in PKP1 disrupt desmosome structure, leading to skin fragility syndromes such as ectodermal dysplasia/skin fragility syndrome[1][3][4]. Plakophilin-1 is not a conventional therapeutic target like a receptor or enzyme; its disease associations primarily reflect loss-of-function genetics rather than druggable pharmacology. It is involved in regulation of the actin cytoskeleton and also in control of protein translation and cell proliferation[4][6].

Other names

Band 6 proteinB6PEctodermal dysplasia/skin fragility syndrome proteinEDSFSplakophilin-1PKP1band 6 protein