Molecular Genetics and Metabolism Reports (Dec 2020)

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

  • Thorsten Marquardt,
  • Vladimir Bzduch,
  • Max Hogrebe,
  • Stephan Rust,
  • Janine Reunert,
  • Marianne Grüneberg,
  • Julien Park,
  • Nico Callewaert,
  • Robin Lachmann,
  • Yoshinao Wada,
  • Thomas Engel

Journal volume & issue
Vol. 25
p. 100636

Abstract

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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.

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