G6PC

From Wikipedia, the free encyclopedia

Glucose-6-phosphatase, catalytic subunit

Identifiers

G6PC; G6PT; GSD1a; MGC163350

External IDs

OMIM: 232200 MGI: 95607 HomoloGene: 20079

Gene ontology
Molecular Function:	• glucose-6-phosphatase activity • hydrolase activity
Cellular Component:	• endoplasmic reticulum • microsome • membrane • integral to membrane
Biological Process:	• glycogen biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_000151 (mRNA)
NP_000142 (protein)

NM_008061 (mRNA)
NP_032087 (protein)

Location

Chr 17: 38.31 - 38.32 Mb

n/a

Pubmed search

[1]

[2]

Glucose-6-phosphatase, catalytic subunit, also known as G6PC, is a human gene.^[1]

Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease).^[1]

[edit] References

^ ^a ^b Entrez Gene: G6PC glucose-6-phosphatase, catalytic subunit.

[edit] Further reading

Barham SS, Berlin JD, Brackeen RB (1976). "The fine structural localization of testicular phosphatases in man: the control testis.". Cell Tissue Res. 166 (4): 497–510. PMID 175958.
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.
Burchell A, Waddell ID (1990). "Diagnosis of a novel glycogen storage disease: type 1aSP.". J. Inherit. Metab. Dis. 13 (3): 247–9. PMID 2172641.
Hill A, Waddell ID, Hopwood D, Burchell A (1989). "The microsomal glucose-6-phosphatase enzyme of human gall-bladder.". J. Pathol. 158 (1): 53–6. doi:10.1002/path.1711580111. PMID 2547044.
Sacks W, Cowburn D, Bigler RE, et al. (1985). "Evidence for the cerebral uptake in vivo from two pools of glucose and the role of glucose-6-phosphatase in removing excess substrate from brain.". Neurochem. Res. 10 (2): 201–27. PMID 2986020.
Lei KJ, Chen YT, Chen H, et al. (1995). "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.". Am. J. Hum. Genet. 57 (4): 766–71. PMID 7573034.
Parvari R, Moses S, Hershkovitz E, et al. (1995). "Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.". J. Inherit. Metab. Dis. 18 (1): 21–7. PMID 7623438.
Hwu WL, Chuang SC, Tsai LP, et al. (1995). "Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.". Hum. Mol. Genet. 4 (6): 1095–6. PMID 7655466.
Kajihara S, Matsuhashi S, Yamamoto K, et al. (1995). "Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.". Am. J. Hum. Genet. 57 (3): 549–55. PMID 7668282.
Brody LC, Abel KJ, Castilla LH, et al. (1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.". Genomics 25 (1): 238–47. PMID 7774924.
Lei KJ, Pan CJ, Shelly LL, et al. (1994). "Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.". J. Clin. Invest. 93 (5): 1994–9. PMID 8182131.
Lei KJ, Shelly LL, Pan CJ, et al. (1993). "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.". Science 262 (5133): 580–3. PMID 8211187.
Schmoll D, Allan BB, Burchell A (1996). "Cloning and sequencing of the 5' region of the human glucose-6-phosphatase gene: transcriptional regulation by cAMP, insulin and glucocorticoids in H4IIE hepatoma cells.". FEBS Lett. 383 (1-2): 63–6. PMID 8612793.
Lei KJ, Chen H, Pan CJ, et al. (1996). "Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.". Nat. Genet. 13 (2): 203–9. doi:10.1038/ng0696-203. PMID 8640227.
Chevalier-Porst F, Bozon D, Bonardot AM, et al. (1996). "Mutation analysis in 24 French patients with glycogen storage disease type 1a.". J. Med. Genet. 33 (5): 358–60. PMID 8733042.
Lee WJ, Lee HM, Chi CS, et al. (1997). "Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.". Clin. Genet. 50 (4): 206–11. PMID 9001800.
Parvari R, Lei KJ, Bashan N, et al. (1997). "Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.". Am. J. Med. Genet. 72 (3): 286–90. PMID 9332655.
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.
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.
Pan CJ, Lei KJ, Chou JY (1998). "Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase.". J. Biol. Chem. 273 (34): 21658–62. PMID 9705299.