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Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.

Hum. Mutat.. 2019; 
EnogieruOsatohanmwen J,UngPeter M U,YeeSook Wah,SchlessingerAvner,GiacominiKathle
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Mammalian Expression System … NP_000331.1) was cloned into the pcDNA5™/FRT mammalian expression vector (Thermo Fisher Scientific) to produce the pcDNA5-GLUT2 plasmid. Site-directed mutagenesis service, performed by GenScript®, was used to This article is protected by copyright … Get A Quote
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摘要

Deleterious variants in SLC2A2 cause Fanconi-Bickel Syndrome (FBS), a glycogen storage disorder, whereas less common variants in SLC2A2 associate with numerous metabolic diseases. Phenotypic heterogeneity in FBS has been observed, but its causes remain unknown. Our goal was to functionally characterize rare SLC2A2 variants found in FBS and metabolic disease-associated variants to understand the impact of these variants on GLUT2 activity and expression and establish genotype-phenotype correlations. Complementary RNA-injected Xenopus laevis oocytes were used to study mutant transporter activity and membrane expression. GLUT2 homology models were constructed for mutation analysis using GLUT1, GLUT3, and ... More

关键词

Fanconi-Bickel syndrome,GLUT2,SLC2A2,glucose transport,glycogen storage,orphan disease,rare disease,rare variants,structural homology,type 2 diab