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desmosomal proteins

Sunday 5 February 2006

Desmosomes represent major intercellular adhesive junctions at basolateral membranes of epithelial cells and in other tissues.

They mediate direct cell-cell contacts and provide anchorage sites for intermediate filaments important for the maintenance of tissue architecture.

There is increasing evidence now that desmosomes in addition to a simple structural function have new roles in tissue morphogenesis and differentiation.

Transmembrane glycoproteins of the cadherin superfamily of Ca(2+)-dependent cell-cell adhesion molecules which mediate direct intercellular interactions in desmosomes appear to be of central importance in this respect.

The complex network of proteins forming the desmosomal plaque associated with the cytoplasmic domain of the desmosomal cadherins, however, is also involved in junction assembly and regulation of adhesive strength.

- germ-line mutations of plakoglobin (JUP) in

  • Naxos disease (MIM.601214) combining palmoplantar keratoderma, ectodermal disorders and arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC MIM.107970)
  • arrhythmogenic right ventricular cardiomyopathy (ARVC) (12373648, 17924338, 17924338)

See also

- desmosomal proteins
- desmosomal assembly
- desnosomal maintenance

References

- Huber O. Structure and function of desmosomal proteins and their role in development and disease. Cell Mol Life Sci. 2003 Sep;60(9):1872-90. PMID: 14523549