SLC37A4-CDG: Mislocalization of the Glucose-6-phosphate Transporter to the Golgi Causes a New Congenital Disorder of Glycosylation

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2020 Sep 5

PMID 32884905

Citations 4

Authors

Thorsten Marquardt

Vladimir Bzduch

Max Hogrebe

Stephan Rust

Janine Reunert

Marianne Gruneberg

Julien Park

Nico Callewaert

Robin Lachmann

Yoshinao Wada

Thomas Engel

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.

Raynor A, Haouari W, Ng B, Cholet S, Harroche A, Raulet-Bussian C Clin Chim Acta. 2021; 521:104-106.

PMID: 34245688 PMC: 9119027. DOI: 10.1016/j.cca.2021.07.005.

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.

Ng B, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M Am J Hum Genet. 2021; 108(6):1040-1052.

PMID: 33964207 PMC: 8206404. DOI: 10.1016/j.ajhg.2021.04.013.

SLC37A4-CDG: Second patient.

Wilson M, Quelhas D, Leao-Teles E, Sturiale L, Rymen D, Keldermans L JIMD Rep. 2021; 58(1):122-128.

PMID: 33728255 PMC: 7932867. DOI: 10.1002/jmd2.12195.

Novel Insights into Selected Disease-Causing Mutations within the Gene Encoding the CMP-Sialic Acid Transporter.

Szulc B, Zadorozhna Y, Olczak M, Wiertelak W, Maszczak-Seneczko D Int J Mol Sci. 2021; 22(1).

PMID: 33396746 PMC: 7795627. DOI: 10.3390/ijms22010304.

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