SLC37A4
Glucose-6-phosphate translocase is an enzyme that in humans is encoded by the SLC37A4 gene.[1][2][3]
References
References
- ↑ 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. doi:10.1016/S0014-5793(97)01463-4. PMID 9428641.
- ↑ 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. PMC 1376902. PMID 9463334.
- ↑ “Entrez Gene: SLC37A4 Solute carrier family 37 (glycerol-6-phosphate transporter), member 4”.
Further reading
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. PMC 1051271. 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. PMC 1377500. 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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