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SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation

Abstract : SLC10A7, encoded by the so-called SLC10A7 gene, is the seventh member of a human sodium/bile acid cotransporter family, known as the SLC10 family. Despite similarities with the other members of the SLC10 family, SLC10A7 does not exhibit any transport activity for the typical SLC10 substrates and is then considered yet as an orphan carrier. Recently, SLC10A7 mutations have been identified as responsible for a new Congenital Disorder of Glycosylation (CDG). CDG are a family of rare and inherited metabolic disorders, where glycosylation abnormalities lead to multisystemic defects. SLC10A7-CDG patients presented skeletal dysplasia with multiple large joint dislocations, short stature and amelogenesis imperfecta likely mediated by glycosaminoglycan (GAG) defects. Although it has been demonstrated that the transporter and substrate specificities of SLC10A7, if any, differ from those of the main members of the protein family, SLC10A7 seems to play a role in Ca2+ regulation and is involved in proper glycosaminoglycan biosynthesis, especially heparan-sulfate, and N-glycosylation. This paper will review our current knowledge on the known and predicted structural and functional properties of this fascinating protein, and its link with the glycosylation process.
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Soumis le : vendredi 21 janvier 2022 - 13:47:54
Dernière modification le : mercredi 23 mars 2022 - 15:51:30




Zoe Durin, Johanne Dubail, Aurore Layotte, Dominique Legrand, Valérie Cormier-Daire, et al.. SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation. Human Genetics, Springer Verlag, 2022, Human Genetics, ⟨10.1007/s00439-021-02420-x⟩. ⟨hal-03538979⟩



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