Medical Definition of Genetic transport defect

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Genetic transport defect: Within the body, many molecules are able to pass across the membranes that surround cells. These molecules can accomplish this feat due to specific transport systems. These systems include special receptors on the membrane of the cell and special carrier proteins. The receptor recognizes the molecule and receives it on the cell membrane. Then the molecule hitches a ride through the cell membrane on the back of a carrier protein.

With such remarkable specificity, it is little wonder that sometimes there are defects in transport systems. Several dozen different diseases are now known to be due to transport defects.

Am example of a transport disease is cystinuria, the most common defect known in the transport of an amino acid (namely, cystine) and a significant cause of kidney stones. Like cystinuria, all transport defects are genetic (inherited).

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Reviewed on 12/27/2018

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