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:
Related Diseases:
References:
1. |
Lee PJ et al. (1995) Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.
|
2. |
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.
|
3. |
Santer R et al. (1997) Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
|
4. |
Sanjad SA et al. (1993) Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
|
5. |
Tanizawa Y et al. (1994) Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients.
|
6. |
Mueckler M et al. (1994) A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity.
|
7. |
Mueckler M et al. (1985) Sequence and structure of a human glucose transporter.
|
8. |
Santer R et al. (2002) The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
|
9. |
Sakamoto O et al. (2000) Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.
|
10. |
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.
|
11. |
Akagi M et al. (2000) Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.
|
12. |
Müller D et al. (1997) Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.
|
13. |
Berry GT et al. (1995) Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.
|
14. |
FANCONI G et al. (1949) [Not Available]
|
15. |
Orphanet article
Orphanet ID 118828
|
16. |
NCBI article
NCBI 6514
|
17. |
OMIM.ORG article
Omim 138160
|
18. |
Wikipedia article
Wikipedia EN (GLUT2)
|
Update: Aug. 14, 2020