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Glucose-6-Phosphatase, Catalytic 3 (G6PC3)

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UGRP; Glucose-6-phosphatase beta; Ubiquitous glucose-6-phosphatase catalytic subunit-related protein

Glucose-6-Phosphatase, Catalytic 3 (G6PC3)
CCC J079
HGNC 24861
MGI 1915651
PubMed 22469094
RGD 727875
UniProt Q9BUM1
Wiki G6PC3
G6PC3 encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein.
Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocytes.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glucose-6-Phosphatase, Catalytic 3 (G6PC3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glucose-6-Phosphatase, Catalytic 3 (G6PC3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glucose-6-Phosphatase, Catalytic 3 (G6PC3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glucose-6-Phosphatase, Catalytic 3 (G6PC3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucose-6-Phosphatase, Catalytic 3 (G6PC3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glucose-6-Phosphatase, Catalytic 3 (G6PC3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glucose-6-Phosphatase, Catalytic 3 (G6PC3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glucose-6-Phosphatase, Catalytic 3 (G6PC3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glucose-6-Phosphatase, Catalytic 3 (G6PC3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucose-6-Phosphatase, Catalytic 3 (G6PC3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glucose-6-Phosphatase, Catalytic 3 (G6PC3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glucose-6-Phosphatase, Catalytic 3 (G6PC3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glucose-6-Phosphatase, Catalytic 3 (G6PC3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glucose-6-Phosphatase, Catalytic 3 (G6PC3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucose-6-Phosphatase, Catalytic 3 (G6PC3) ELISA Kit Customized Service Offer
  1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein."J. Mol. Endocrinol. 29:205-222(2002) [PubMed] [Europe PMC] [Abstract]
  3. "Identification and characterisation of a new human glucose-6-phosphatase isoform."FEBS Lett. 551:159-164(2003) [PubMed] [Europe PMC] [Abstract]
  4. "A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia."J. Biol. Chem. 278:47098-47103(2003) [PubMed] [Europe PMC] [Abstract]
  5. "Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysis."J. Biol. Chem. 279:12479-12483(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Identification and characterization of a cDNA and the gene encoding the mouse ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein."J. Mol. Endocrinol. 32:33-53(2004) [PubMed] [Europe PMC] [Abstract]
  7. "A syndrome with congenital neutropenia and mutations in G6PC3." N. Engl. J. Med. 360:32-43(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Mutations in the G6PC3 gene cause Dursun syndrome."Am. J. Med. Genet. A 152:2609-2611(2010) [PubMed] [Europe PMC] [Abstract]
  9. "Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis."Blood 116:2793-2802(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Digenic mutations in severe congenital neutropenia."Haematologica 95:1207-1210(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia."Br. J. Haematol. 158:146-149(2012) [PubMed] [Europe PMC] [Abstract]
  12. "Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia." J. Pediatr. 160:679-683(2012) [PubMed] [Europe PMC] [Abstract]
  13. "A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family."J. Clin. Immunol. 33:1403-1406(2013) [PubMed] [Europe PMC] [Abstract]
  14. "G6PC3 mutations cause non-syndromic severe congenital neutropenia."Mol. Genet. Metab. 108:138-141(2013) [PubMed] [Europe PMC] [Abstract]
  15. "A novel G6PC3 gene mutation in a patient with severe congenital neutropenia."J. Pediatr. Hematol. Oncol. 35:E81-E83(2013) [PubMed] [Europe PMC] [Abstract]
  16. "A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome."Eur. J. Haematol. 94:79-82(2015) [PubMed] [Europe PMC] [Abstract]
  17. "Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency."Mol. Genet. Metab. 114:41-45(2015) [PubMed] [Europe PMC] [Abstract]