Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease

  • Miryam Cannizzaro
  • Jana Jarošová
  • Boel De PaepeEmail author
Human Genetics • Review


The solute carrier (SLC) group of membrane transport proteins is crucial for cells via their control of import and export of vital molecules across the cellular membrane. Defects in these transporters with narrow substrate specificities cause monogenic disorders, giving us essential clues of their precise roles in cellular functioning. The SLC5 family in particular has been linked to various human diseases, of mild and severe phenotype as well as high and low prevalence. In this review, we describe the effects on health of SLC5 dysfunction and dysregulation by summarizing findings in patients with transporter gene defects. Patients display a plethora of pathologies which include glucose/galactose malabsorption, familiar renal glycosuria, thyroid dyshormonogenesis, and distal hereditary motor neuronopathies. In addition, the therapeutic potential of intervening in transporter activities for treating common diseases such as diabetes and cancer is explored.


Solute carriers Diabetes Cancer Sodium glucose cotransporters Glucose/galactose malabsorption 



The international cooperation writing of this paper entailed was supported by the International Federation of Medical Students’ Associations (IFMSA) SCORE research exchange program.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki Declaration and its later amendments.

Informed consent

Informed consent was obtained from all individual participants in the reported studies.


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Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2019

Authors and Affiliations

  1. 1.Department of Neurology & Neuromuscular Reference CenterGhent University HospitalGhentBelgium

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