SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

• Main Authors: Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel
• Format: Article
• Language: English
• Published: Elsevier 2020-12-01
• Series: Molecular Genetics and Metabolism Reports
• Subjects: CDG; Glycosylation; Glycogen storage disease; SLC37A4
• Online Access: http://www.sciencedirect.com/science/article/pii/S2214426920300823
• ISSN: 2214-4269

Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter leads to a congenital disorder of glycosylation instead of glycogen storage disease.