Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region

Stable Identifier
Reaction [transition]
Homo sapiens
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The reversible facilitated diffusion of fructose, galactose, and glucose from the cytosol to the extracellular space is mediated by the SLC2A2 (GLUT2) transporter in the plasma membrane. In the epithelial cells of the small intestine, the basolateral localisation of SLC2A2 enables hexose sugars derived from the diet (and taken up by SLC5A1 and SLC2A5 transporters into cells) to be released into the circulation. SLC2A2 is a low affinity glucose transporter expressed mainly in the kidney, liver and pancreatic beta-cells. In beta-cells, it functions as a glucose-sensor for insulin secretion and in the liver, it allows for bi-directional glucose transport. Defects in SLC2A2 can cause Fanconi-Bickel syndrome (FBS; MIM:227810), a rare but well-defined disorder characterised by glycogen accumulation, proximal renal tubular dysfunction, and impaired utilisation of glucose and galactose. Mutation in SLC2A2 causing FBS include 1bp del, R365*, R301*, P417L, V423E, Q287* and L389P (Santer et al. 1997, Burwinkel et al. 1999, Sakamoto et al. 2000).

Literature References
PubMed ID Title Journal Year
10987651 A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity

Kilimann, MW, Al-Sabban, E, Al-Abbad, A, Sanjad, SA, Burwinkel, B

Hum Genet 1999
9354798 Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

Santer, R, Dombrowski, A, Steinmann, B, Gotze, H, Schaub, J, Schneppenheim, R

Nat Genet 1997
11044475 Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome

Ohura, T, Igarashi, Y, Matsubara, Y, Narisawa, K, Sakamoto, O, Iinuma, K, Ogawa, E

Pediatr. Res. 2000
Catalyst Activity

hexose transmembrane transporter activity of SLC2A2 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC2A2 mutants [plasma membrane]

Name Identifier Synonyms
renal tubular transport disease DOID:447 inborn renal tubular transport disorder
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