SLC37A4
Solute carrier family 37 (glycerol-6-phosphate transporter), member 4 | |||||||||||
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Identifiers | |||||||||||
Symbols | SLC37A4 ; G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; MGC15729; PRO0685; TRG19 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 37482 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE SLC37A4 217289 s at tn.png | |||||||||||
File:PBB GE SLC37A4 202830 s at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Solute carrier family 37 (glycerol-6-phosphate transporter), member 4, also known as SLC37A4, is a human gene.[1]
References
Further reading
- Chou JY, Matern D, Mansfield BC, Chen YT (2002). "Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex". Curr. Mol. Med. 2 (2): 121–43. PMID 11949931.
- Narisawa K, Igarashi Y, Otomo H, Tada K (1978). "A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system". Biochem. Biophys. Res. Commun. 83 (4): 1360–4. PMID 212064.
- Gerin I, Veiga-da-Cunha M, Achouri Y; et al. (1998). "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib". FEBS Lett. 419 (2–3): 235–8. PMID 9428641.
- Annabi B, Hiraiwa H, Mansfield BC; et al. (1998). "The gene for glycogen-storage disease type 1b maps to chromosome 11q23". Am. J. Hum. Genet. 62 (2): 400–5. PMID 9463334.
- Fenske CD, Jeffery S, Weber JL; et al. (1998). "Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q". J. Med. Genet. 35 (4): 269–72. PMID 9598717.
- Kure S, Suzuki Y, Matsubara Y; 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". Biochem. Biophys. Res. Commun. 248 (2): 426–31. doi:10.1006/bbrc.1998.8985. PMID 9675154.
- Veiga-da-Cunha M, Gerin I, Chen YT; 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". Am. J. Hum. Genet. 63 (4): 976–83. PMID 9758626.
- Marcolongo P, Barone V, Priori G; et al. (1998). "Structure and mutation analysis of the glycogen storage disease type 1b gene". FEBS Lett. 436 (2): 247–50. PMID 9781688.
- Lin B, Annabi B, Hiraiwa H; et al. (1998). "Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents". J. Biol. Chem. 273 (48): 31656–60. PMID 9822626.
- Ihara K, Kuromaru R, Hara T (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". Hum. Genet. 103 (4): 493–6. PMID 9856496.
- Ihara K, Takabayashi A, Terasaki K, Hara T (1999). "Assignment1 of glucose 6-phosphate translocase (G6PT1) to human chromosome band 11q23.3 by in situ hybridization". Cytogenet. Cell Genet. 83 (1–2): 50–1. PMID 9925924.
- Gerin I, Veiga-da-Cunha M, Noël G, Van Schaftingen E (1999). "Structure of the gene mutated in glycogen storage disease type Ib". Gene. 227 (2): 189–95. PMID 10023055.
- Hiraiwa H, Pan CJ, Lin B; et al. (1999). "Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b". J. Biol. Chem. 274 (9): 5532–6. PMID 10026167.
- Pan CJ, Lin B, Chou JY (1999). "Transmembrane topology of human glucose 6-phosphate transporter". J. Biol. Chem. 274 (20): 13865–9. PMID 10318794.
- Janecke AR, Bosshard NU, Mayatepek E; et al. (1999). "Molecular diagnosis of type 1c glycogen storage disease". Hum. Genet. 104 (3): 275–7. PMID 10323254.
- Hou DC, Kure S, Suzuki Y; et al. (1999). "Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene". Am. J. Med. Genet. 86 (3): 253–7. PMID 10482875.
- Veiga-da-Cunha M, Gerin I, Chen YT; et al. (1999). "The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a". Eur. J. Hum. Genet. 7 (6): 717–23. doi:10.1038/sj.ejhg.5200366. PMID 10482962.
- Galli L, Orrico A, Marcolongo P; et al. (1999). "Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c". FEBS Lett. 459 (2): 255–8. PMID 10518030.
- Lam CW, Chan KY, Tong SF; et al. (2000). "A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b". Hum. Mutat. 16 (1): 94. doi:10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q. PMID 10874322.
- Santer R, Rischewski J, Block G; et al. (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". Hum. Mutat. 16 (2): 177. doi:10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8. PMID 10923042.
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