The SLC37A4 transport protein in the endoplasmic reticulum membrane normally mediates the exchange of cytosolic glucose-6-phosphate and orthophosphate from the endoplasmic reticulum lumen. Defects in this transporter are associated with glycogen storage disease type Ib. The two missense mutant forms of SLC37A4 annotated here are examples of the many that have been described (Gerin et al. 1997; Chen et al. 2008; Veiga-da-Cunha et al. 1998).
Collet, JF, Achouri, Y, Gerin, I, Veiga-da-Cunha, M, Van Schaftingen, E
Chou, JY, Pan, CJ, Mansfield, BC, Nandigama, K, Ambudkar, SV, Chen, SY
Fenske, CD, Chen, Y-T, Leonard, JV, Schweitzer, S, de Barsy, T, Maire, I, Lee, PJ, de Lonlay, P, Vikkula, M, McConkie-Rosell, A, Gerin, I, Dionisi-Vici, C, Veiga-da-Cunha, M, Van Schaftingen, E
glucose 6-phosphate:inorganic phosphate antiporter activity of SLC37A4 mutants [endoplasmic reticulum membrane]
Loss of function of SLC37A4 mutants [endoplasmic reticulum membrane]
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