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SLC37A4: Wikis

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Solute carrier family 37 (glycerol-6-phosphate transporter), member 4
Identifiers
Symbols SLC37A4; G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; MGC15729; PRO0685; TRG19
External IDs OMIM602671 MGI1316650 HomoloGene37482 GeneCards: SLC37A4 Gene
RNA expression pattern
PBB GE SLC37A4 217289 s at tn.png
PBB GE SLC37A4 202830 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2542 14385
Ensembl ENSG00000137700 ENSMUSG00000032114
UniProt O43826 n/a
RefSeq (mRNA) NM_001467 NM_008063
RefSeq (protein) NP_001458 NP_032089
Location (UCSC) Chr 11:
118.4 - 118.41 Mb
Chr 9:
44.15 - 44.15 Mb
PubMed search [1] [2]

Glucose-6-phosphate translocase is an enzyme that in humans is encoded by the SLC37A4 gene.[1][2][3]

See also

References

  1. ^ Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E (Jan 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.  
  2. ^ Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY (Apr 1998). "The gene for glycogen-storage disease type 1b maps to chromosome 11q23". Am J Hum Genet 62 (2): 400-5. doi:10.1086/301727. PMID 9463334.  
  3. ^ "Entrez Gene: SLC37A4 Solute carrier family 37 (glycerol-6-phosphate transporter), member 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2542.  

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. doi:10.2174/1566524024605798. 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. doi:10.1016/0006-291X(78)91371-2. PMID 212064.  
  • 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. doi:10.1136/jmg.35.4.269. 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. doi:10.1086/302068. 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. doi:10.1016/S0014-5793(98)01129-6. 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. doi:10.1074/jbc.273.48.31656. 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. doi:10.1007/s004390050856. 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. doi:10.1159/000015167. 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. doi:10.1016/S0378-1119(98)00614-3. 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. doi:10.1074/jbc.274.9.5532. PMID 10026167.  
  • Pan CJ, Lin B, Chou JY (1999). "Transmembrane topology of human glucose 6-phosphate transporter.". J. Biol. Chem. 274 (20): 13865–9. doi:10.1074/jbc.274.20.13865. 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. doi:10.1007/s004390050948. 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. doi:10.1002/(SICI)1096-8628(19990917)86:3<253::AID-AJMG11>3.0.CO;2-7. 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. doi:10.1016/S0014-5793(99)01248-X. 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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