Defective SLC37A4 does not exchange G6P and Pi across the ER membrane

Stable Identifier
Reaction [transition]
Homo sapiens
Locations in the PathwayBrowser
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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).

Literature References
PubMed ID Title Journal Year
9428641 Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib

Collet, JF, Achouri, Y, Gerin, I, Veiga-da-Cunha, M, Van Schaftingen, E

FEBS Lett 1997
18337460 The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic

Chou, JY, Pan, CJ, Mansfield, BC, Nandigama, K, Ambudkar, SV, Chen, SY

FASEB J. 2008
9758626 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic

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

Am. J. Hum. Genet. 1998
Catalyst Activity

glucose 6-phosphate:inorganic phosphate antiporter activity of SLC37A4 mutants [endoplasmic reticulum membrane]

Normal reaction
Functional status

Loss of function of SLC37A4 mutants [endoplasmic reticulum membrane]

Name Identifier Synonyms
glycogen storage disease I DOID:2749 deficiency of glucose-6-phosphatase, glycogenosis type I, von Gierke's disease, glycogen storage disease type I, Glycogen storage disease, type I (disorder), von Gierke disease
Cite Us!