Glucose-6-Phosphat-Austauscher SLC37A4
Das SLC37A4-Gen kodiert ein Transportprotein, welches Glocose-6-Phosphat vom Zytoplasma ins endoplasmatische Retikulum transportiert. Es spielt eine wichtige Rolle bei der Glucose-Homöostase in der Zelle und der Regulation der intrazellulären Konzentration freien Calciums. Mutationen sind für die autosomal rezessiven Glycogenspeicherkrankheiten 1B und 1C verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Fenske CD et al. (1998) Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.
|
2. |
Belkaid A et al. (2006) Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: potential new anticancer target for curcumin.
|
3. |
Chen LY et al. (2003) Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.
|
4. |
Chen LY et al. (2002) Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
|
5. |
Lin B et al. (2000) Human variant glucose-6-phosphate transporter is active in microsomal transport.
|
6. |
Hiraiwa H et al. (2001) A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice.
|
7. |
Janecke AR et al. (2000) Mutation analysis in glycogen storage disease type 1 non-a.
|
8. |
Ihara K et al. (2000) Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells.
|
9. |
Chen LY et al. (2000) Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.
|
10. |
Galli L et al. (1999) Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.
|
11. |
Veiga-da-Cunha M et al. (1999) The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
|
12. |
Hou DC et al. (1999) Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.
|
13. |
Hiraiwa H et al. (1999) Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.
|
14. |
Gerin I et al. (1999) Structure of the gene mutated in glycogen storage disease type Ib.
|
15. |
Ihara K et al. (1998) Assignment1 of glucose 6-phosphate translocase (G6PT1) to human chromosome band 11q23.3 by in situ hybridization.
|
16. |
Ihara K et al. (1998) Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.
|
17. |
Marcolongo P et al. (1998) Structure and mutation analysis of the glycogen storage disease type 1b gene.
|
18. |
Kure S et al. (2000) Glycogen storage disease type Ib without neutropenia.
|
19. |
Kure S et al. (1998) Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.
|
20. |
Janecke AR et al. (1999) Molecular diagnosis of type 1c glycogen storage disease.
|
21. |
Veiga-da-Cunha M et al. (1998) A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
|
22. |
Gerin I et al. (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.
|
23. |
NCBI article
NCBI 2542
|
24. |
OMIM.ORG article
Omim 602671
|
25. |
Orphanet article
Orphanet ID 119474
|
Update: 14. August 2020