Disease:Defects in SLC2A2 are the cause of Fanconi-Bickel syndrome (FBS) [MIM:227810]. FBS is a rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.,Function:Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney.,online information:GLUT2 entry,PTM:N-glycosylated; required for stability and retention at the cell surface of pancreatic beta cells.,similarity:Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.,tissue specificity:Liver, insulin-producing beta cell, small intestine and kidney.,
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