Recombinant Human Glucose-6-phosphatase 3 (G6PC3), partial

1. these results indicated that coronin3 is significantly dysregulated in hepatocellular carcinoma tumor tissues, and may exert its function via regulating G6PC3 expression. PMID: 28713988
2. mir-122 and its targets G6PC3, ALDOA and CS play roles in the hypoxia responses that regulate glucose and energy metabolism and can serve as hypoxia biomarkers. PMID: 27793029
3. classic features of SCN IV found to share an identical inherited canonical splice-site mutation of the G6PC3 gene (c.218+1G>A). PMID: 27571123
4. Multilineage involvement of immune system occurs in G6PC3 deficiency in addition to the previously described neutropenia and multiple abnormalities. PMID: 26479985
5. G6PC3 defects should be considered in any case of congenital, unexplained neutropenia regardless of the clinical phenotype. PMID: 25391451
6. functional characterization of 16 of the 19 known missense mutations in severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency;14 missense mutations completely abolish G6Pase-beta activity while the p.S139I and p.R189Q mutations retain 49% and 45%, respectively of wild type activity PMID: 25492228
7. Severe congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity. PMID: 25491320
8. A role for G6PC3 in testicular differentiation and formation. PMID: 24796372
9. G6PC3 mutation is associated with severe congenital neutropenia. PMID: 25284454
10. Glucose 6 phosphatase catalytic subunit-3 deficiency due to mutation is a heterogenous disorder characterized by severe congenital neutropenia. PMID: 24322501
11. Biallelic G6PC3 defects should be considered in patients with autosomal recessive cyclic neutropenia, especially those with typical associated congenital defects. PMID: 24105461
12. review of clinical, molecular and genetic aspects of G6PC3 deficiency; loss of function in missense G6PC3 mutations likely results from decreased enzyme stability; the condition can be diagnosed by sequencing G6PC3 gene; a number of G6PC3 ounder mutations are known in various populations and possible genotype-phenotype relationship also exists PMID: 23758768
13. 4 ELANE mutations, 11 HAX1 mutations and 2 G6PC3 mutations have been identified in Iranian patients with severe congenital neutropenia. PMID: 23454784
14. G6PC3 deficiency may present with inflammatory bowel disease and T cell lymphopenia. The diagnosis should thus be considered in a patient with chronic congenital neutropenia and gastrointestinal symptoms. PMID: 23180359
15. G6PC3 mutations cause non-syndromic severe congenital neutropenia. PMID: 23298686
16. Three different homozygous G6PC3 mutations were detected in four of the 108 patients/kindreds studied. Parents of affected individuals were all heterozygous for the mutation. PMID: 22469094
17. The phenotypic and molecular spectrum in G6PC3 deficiency is wider than previously appreciated. The risk of transition to myelodysplastic syndrome or acute myeloid leukemia may be lower in G6PC3 deficiency compared with other subgroups of SCN PMID: 22050868
18. Sequence analyses of G6PC3 in 2 patients with Severe congenital neutropenia revealed two different homozygous mutations PMID: 21891829
19. analysis of SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia [case report] PMID: 21677667
20. G6PC3 mutations are associated with a major defect of glycosylation resulting in glycogen storage disease type-1. PMID: 21385794
21. G6PC3 deficiency is a syndromic variant of severe congenital neutropenia associating congenital neutropenia with various developmental defects including cardiac and urogenital malformations PMID: 21206270
22. We provide an overview of the non-haematological features of the condition with a focus on the adult severe congenital neutropenia phenotype, which has not previously been described in detail caused by mutations in G6PC3. PMID: 20717171
23. genetic association studies between G6PC3 mutations and bone marrow phenotype/pathology: findings do not support a genotype-phenotype relationship -- possibility of founder mutations in patients with Caucasian and Middle Eastern ancestry PMID: 21264919
24. Mutaations in G6PC3 cause severe congenital neutropenia type 4. PMID: 20799326
25. in nonapoptotic neutrophils, G6PC3 is essential for normal energy homeostasis. A G6PC3 deficiency prevents recycling of ER glucose to the cytoplasm, leading to neutrophil dysfunction PMID: 20498302
26. identified a family with 2 children with homozygous G6PC3 G260R mutations, a loss of enzymatic function, and typical syndrome features with the exception that their bone marrow biopsy pathology revealed abundant neutrophils consistent with myelokathexis PMID: 20616219
27. describe congenital neutropenia patients with mutations in two candidate genes each,HAX1 and G6PC3, including 6 novel mutations PMID: 20220065
28. ubiquitously expressed G6Pase catalytic subunit-related protein; has a similar predicted transmembrane topology and conservation of many catalytically important residues with the G6Pase catalytic subunit (UGRP) PMID: 12370122
29. Molecular cloning and characterization of G6PC3, a new glucose-6-phosphatase isoform. PMID: 12965222
30. Thirty-three French-Canadian families with non-dystrophic myotonia were identified.Thirteen mutations were identified in CLCN1 and five mutations were identified in SCN4A PMID: 18337100
31. Defective function of glucose-6-phosphatase, catalytic subunit 3, underlies a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations. PMID: 19118303

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HGNC: 24861

OMIM: 611045

KEGG: hsa:92579

STRING: 9606.ENSP00000269097

UniGene: Hs.294005