Article
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
American journal of human genetics - 3 Jun 2021
Ng Bobby G, Sosicka Paulina, Fenaille François, Harroche Annie, Vuillaumier-Barrot Sandrine, Porterfield Mindy, Xia Zhi-Jie, Wagner Shannon, Bamshad Michael J, Vergnes-Boiteux Marie-Christine, Cholet Sophie, Dalton Stephen, Dell Anne, Dupré Thierry, Fiore Mathieu, Haslam Stuart M, Huguenin Yohann, Kumagai Tadahiro, Kulik Michael, McGoogan Katherine, Michot Caroline, Nickerson Deborah A, Pascreau Tiffany, Borgel Delphine, Raymond Kimiyo, Warad Deepti, Flanagan-Steet Heather, Steet Richard, Tiemeyer Michael, Seta Nathalie, Bruneel Arnaud, Freeze Hudson H
Abstract excerpt
SLC37A4 encodes an endoplasmic reticulum (ER)-localized multitransmembrane protein required for transporting glucose-6-phosphate (Glc-6P) into the ER. Once transported into the ER, Glc-6P is subsequently hydrolyzed by tissue-specific phosphatases to glucose and inorganic phosphate during times of glucose depletion. Pathogenic variants in SLC37A4 cause an established recessive disorder known as glycogen storage...
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