Plakin

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A plakin is a protein that associates with junctional complexes and the cytoskeleton. [1]

Types include desmoplakin, envoplakin, periplakin, plectin, bullous pemphigoid antigen 1, corneodesmosin, and microtubule actin cross-linking factor. [2]

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Desmoplakin

Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.

Dystonin

Dystonin(DST), also known as bullous pemphigoid antigen 1 (BPAG1), isoforms 1/2/3/4/5/8, is a protein that in humans is encoded by the DST gene.

Periplakin

Periplakin is a protein that in humans is encoded by the PPL gene.

MACF1

Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5 is a protein that in humans is encoded by the MACF1 gene.

Epiplakin

Epiplakin is a protein that in humans is encoded by the EPPK1 gene. It belongs to the family of plakin proteins and is found in the human epidermis. It consists of 13 domains which are all similar to the B domain located at the C terminus of the human epidermal and cardiac muscle protein desmoplakin. The domains in epiplakin range from 46-70% in their homology to this B domain in desmoplakin. It was first identified as an autoantigen in a person who suffers from a rare autoimmune skin disease. Epiplakin was sequenced to have a total of 5065 amino acid residues and based on its amino acid composition it has a molecular weight of about 552 kDa.

Envoplakin

Envoplakin is a protein that in humans is encoded by the EVPL gene.

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References

  1. Plakins at the US National Library of Medicine Medical Subject Headings (MeSH)
  2. William B. Coleman; Gregory J. Tsongalis (2009). Molecular pathology: the molecular basis of human disease. Academic Press. pp. 531–. ISBN   978-0-12-374419-7 . Retrieved 29 December 2010.