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AlternativeMed
modern wellness · Symptom

Abnormal distribution of cell junction proteins in buccal mucosal cells

🩺 HPO Source
HPO Label
Abnormal distribution of cell junction proteins in buccal mucosal cells
HPO Definition
An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.
HPO Curator Comment
Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy.