Xcode Life

Gene: TRAPPC4

Gene: SLC37A4

Alternate names for this Gene: G6PT1|G6PT2|G6PT3|GSD1b|GSD1c|GSD1d|PRO0685|TRG-19|TRG19

Gene Summary: This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: solute carrier family 37 member 4

Type of Gene: protein-coding

rs80356490 in TRAPPC4;SLC37A4 gene and Glucose-6-phosphate transport defect

PMID 11071391 2000 Mutation analysis in glycogen storage disease type 1 non-a.

PMID 15669677 2004 Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

PMID 25356975 2014 Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

PMID 10940311 2000 Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.

PMID 9758626 1998 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

PMID 15953877 2005 A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

PMID 18835800 2008 Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

PMID 12444104 2002 Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

PMID 9675154 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.

PMID 11949931 2002 Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

PMID 12409273 2002 Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

PMID 10923042 2000 Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

PMID 19579760 2009 Glycogen storage disease type Ib: the first case in Taiwan.

PMID 10026167 1999 Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

PMID 10931421 2000 Glycogen storage disease type Ib without neutropenia.

PMID 10518030 1999 Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

PMID 15059622 2004 Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

PMID 9856496 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.

PMID 10874322 2000 A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

PMID 21629566 2011 A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

PMID 10482962 1999 The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

PMID 10482875 1999 Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

PMID 9781688 1998 Structure and mutation analysis of the glycogen storage disease type 1b gene.

PMID 9428641 1997 Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.