Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Glycogenspeicherkrankheit 1C
SLC37A4
Glycogenspeicherkrankheit 1B
SLC37A4

Referenzen:

1.

Gerin I et. al. (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

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2.

Fenske CD et. al. (1998) Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.

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3.

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.

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4.

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.

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5.

Marcolongo P et. al. (1998) Structure and mutation analysis of the glycogen storage disease type 1b gene.

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6.

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.

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7.

Ihara K et. al. (1998) Assignment1 of glucose 6-phosphate translocase (G6PT1) to human chromosome band 11q23.3 by in situ hybridization.

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8.

Gerin I et. al. (1999) Structure of the gene mutated in glycogen storage disease type Ib.

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9.

Hiraiwa H et. al. (1999) Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

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10.

Janecke AR et. al. (1999) Molecular diagnosis of type 1c glycogen storage disease.

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11.

Hou DC et. al. (1999) Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

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12.

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.

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13.

Galli L et. al. (1999) Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

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14.

Kure S et. al. (2000) Glycogen storage disease type Ib without neutropenia.

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15.

Chen LY et. al. (2000) Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.

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16.

Ihara K et. al. (2000) Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells.

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17.

Janecke AR et. al. (2000) Mutation analysis in glycogen storage disease type 1 non-a.

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18.

Hiraiwa H et. al. (2001) A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice.

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19.

Lin B et. al. (2000) Human variant glucose-6-phosphate transporter is active in microsomal transport.

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20.

Chen LY et. al. (2002) Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

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21.

Chen LY et. al. (2003) Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.

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22.

Belkaid A et. al. (2006) Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: potential new anticancer target for curcumin.

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