Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glucose-6-phosphate exchanger SLC37A4

The SLC37A4 gene encodes a transport protein of glucose-6-phosphate from the cytosol into the endoplasmatic reticulum. It plays an important role in intracellular glycose and calcium homeostasis. Mutations cause autosomal recessive glycogen storage disease type 1B and 1C.

Genetests:

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

Related Diseases:

Glycogen storage disease 1C
SLC37A4
Glycogen storage disease 1B
SLC37A4

References:

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.

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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4.

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

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5.

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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6.

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

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7.

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

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8.

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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9.

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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10.

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

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11.

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

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12.

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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13.

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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14.

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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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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23.

NCBI article

NCBI 2542 [^]
24.

OMIM.ORG article

Omim 602671 [^]
25.

Orphanet article

Orphanet ID 119474 [^]
26.

Wikipedia article

Wikipedia EN (SLC37A4) [^]
Update: April 29, 2019