SLC37A4
From Wikipedia, the free encyclopedia
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Solute carrier family 37 (glycerol-6-phosphate transporter), member 4
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| Identifiers | ||||||||||||||
| Symbol(s) | SLC37A4; G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; MGC15729; PRO0685; TRG19 | |||||||||||||
| External IDs | OMIM: 602671 MGI: 1316650 HomoloGene: 37482 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 2542 | 14385 | ||||||||||||
| Ensembl | ENSG00000137700 | ENSMUSG00000032114 | ||||||||||||
| Uniprot | O43826 | n/a | ||||||||||||
| Refseq | NM_001467 (mRNA) NP_001458 (protein) |
NM_008063 (mRNA) NP_032089 (protein) |
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| Location | Chr 11: 118.4 - 118.41 Mb | Chr 9: 44.15 - 44.15 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Solute carrier family 37 (glycerol-6-phosphate transporter), member 4, also known as SLC37A4, is a human gene.[1]
[edit] See also
[edit] References
[edit] 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:. 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:. 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:. 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:. PMID 10923042.

