Rare Diseases Symptoms Automatic Extraction

Plectin gene defects lead to various forms of epidermolysis bullosa simplex.

[epidermolysis bullosa simplex]

Plectin is an important organizer of the keratin filament cytoskeleton in basal keratinocytes. It is essential for anchoring these filaments to the extracellular matrix via hemidesmosomal integrins. Loss of plectin or incorrect function of the protein due to mutations in its gene can lead to various forms of the skin blistering disease, epidermolysis bullosa simplex. Severity and subtype of the disease is dependent on the specific mutation and can be associated with (late-onset) muscular dystrophy or pyloric atresia. Mouse models mimicking the human phenotypes allow detailed study of plectin function.

Diseases presenting "specific mutation" symptom

  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • junctional epidermolysis bullosa

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