Glycogen storage disease type Ib (SLC37A4)

Stable Identifier
R-HSA-3229133
Type
Pathway
Species
Homo sapiens
Synonyms
GSD Ib
ReviewStatus
5/5
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Glycogen storage disease type Ib (SLC37A4)
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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 (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

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

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

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

Veiga-da-Cunha, M, Gerin, I, Chen, Y-T, de Barsy, T, de Lonlay, P, Dionisi-Vici, C, Fenske, CD, Lee, PJ, Leonard, JV, Maire, I, McConkie-Rosell, A, Schweitzer, S, Vikkula, M, Van Schaftingen, E

Am. J. Hum. Genet. 1998
Participants
Events
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as an event of
Disease
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
Cross References
Mondo
Authored
D'Eustachio, P  (2013-07-19)
Reviewed
Jassal, B  (2015-08-17)
Created
D'Eustachio, P  (2013-03-26)
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