Plakoglobin

Plakoglobin, also "junctional plakoglobin previously gamma-catenin", is a cytoskeletal structural protein present in cell-cell contact sites such as the desmosomes and in the "adherens junctions". Plakoglobin mediates the connection of actin filaments of the cytoskeleton with the cytoplasmic domain of cadherins.

Plakoglobin shows homologies to β-catenin. Plakoglobin is target antigen of autoantibodies in pemphigus vulgaris.

Plakoglobin is encoded by the junctional plakoglobin(JUP) gene (see there).

A heterozygous, autosomal recessive inherited plakoglobin deficiency(mutation in the JUP gene) results in a syndrome with palmoplantar keratoses, woolly or frizzy hair and an age-related arrhythmogenic right ventricular cardiomyopathy(Naxos syndrome). Note: In this case the palmoplantar keratoses may be indicative of a potential cardiomyopathy.

1. Molho-Pessach V et al (2015) Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. Pediatric Dermatol doi:10.1111/pde.12541
2. Keller DI et al (2012) De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease. Swiss Med Wkly 142:w13670
3. Protonotarios N. et al (1986) Cardiac abnormalities in familial palmoplantar keratosis. Br Heart Journal 56: 321-326