Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glucose transporter 2

The gene that is widely known as GLUT2 encodes a glucose transporter especially abundant in endocrine cells. Mutation are assiciated with the recessive Fanconi-Bickel syndrome and a disposition to type 2 diabetes.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Fanconi-Bickel syndrome
SLC2A2

References:

1.

FANCONI G et al. (1949) [Not Available]

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2.

Lee PJ et al. (1995) Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.

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3.

Berry GT et al. (1995) Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.

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4.

Müller D et al. (1997) Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.

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5.

Akagi M et al. (2000) Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.

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6.

Burwinkel B et al. (1999) A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.

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7.

Sakamoto O et al. (2000) Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.

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8.

Santer R et al. (2002) The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

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9.

Mueckler M et al. (1985) Sequence and structure of a human glucose transporter.

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10.

Mueckler M et al. (1994) A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity.

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11.

Tanizawa Y et al. (1994) Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients.

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12.

Sanjad SA et al. (1993) Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.

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13.

Santer R et al. (1997) Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

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14.

Santer R et al. (1998) Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism.

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15.

Orphanet article

Orphanet ID 118828 [^]
16.

NCBI article

NCBI 6514 [^]
17.

OMIM.ORG article

Omim 138160 [^]
18.

Wikipedia article

Wikipedia EN (GLUT2) [^]
Update: April 29, 2019