“G6PC3”的意思、由来-开放百科全书

This gene 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.^[1]

Clinical significance

Mutations in this gene result in autosomal recessive severe congenital neutropenia.^[4]

G6PC3 deficiency results in a phenotypic continuum.^[5] ^[6] At one end the affected individuals have only neutropenia and related complications but no other organ is affected. This is sometimes referred to as non-syndromic or isolated severe congenital neutropenia.^[7] Most affected individuals have a classic form of the disease with severe congenital neutropenia and cardiovascular and/or urogenital abnormalities.^[8]^[9] Some individuals have severe G6PC3 deficiency (also known as Dursun syndrome) and they have all the features of classic G6PC3 deficiency but in addition show involvement of non-myeloid hematopoietic cell lines, some other extra-hematologic features and pulmonary hypertension.^[10]

References

1. ^¹{{cite web | title = Entrez Gene: glucose 6 phosphatase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=92579| accessdate = }}
2. ^{{cite journal | vauthors = Martin CC, Oeser JK, Svitek CA, Hunter SI, Hutton JC, O'Brien RM | title = Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein | journal = Journal of Molecular Endocrinology | volume = 29 | issue = 2 | pages = 205–22 | date = October 2002 | pmid = 12370122 | doi = 10.1677/jme.0.0290205 }}
3. ^{{cite journal | vauthors = Guionie O, Clottes E, Stafford K, Burchell A | title = Identification and characterisation of a new human glucose-6-phosphatase isoform | journal = FEBS Letters | volume = 551 | issue = 1–3 | pages = 159–64 | date = September 2003 | pmid = 12965222 | doi = 10.1016/S0014-5793(03)00903-7 }}
4. ^{{cite journal | vauthors = Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C | display-authors = 6 | title = A syndrome with congenital neutropenia and mutations in G6PC3 | journal = The New England Journal of Medicine | volume = 360 | issue = 1 | pages = 32–43 | date = January 2009 | pmid = 19118303 | doi = 10.1056/NEJMoa0805051 | pmc=2778311}}
5. ^{{cite book|last1=Banka|first1=Siddharth|title=GeneReviews(®)|publisher=University of Washington, Seattle|url=https://www.ncbi.nlm.nih.gov/books/NBK285321/|chapter=G6PC3 Deficiency}}
6. ^{{cite journal | vauthors = Banka S, Newman WG | title = A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations | journal = Orphanet Journal of Rare Diseases | volume = 8 | pages = 84 | date = June 2013 | pmid = 23758768 | doi = 10.1186/1750-1172-8-84 | pmc=3718741}}
7. ^{{cite journal | vauthors = Banka S, Wynn R, Byers H, Arkwright PD, Newman WG | title = G6PC3 mutations cause non-syndromic severe congenital neutropenia | journal = Molecular Genetics and Metabolism | volume = 108 | issue = 2 | pages = 138–41 | date = February 2013 | pmid = 23298686 | doi = 10.1016/j.ymgme.2012.12.001 }}
8. ^{{cite journal | vauthors = Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C | display-authors = 6 | title = Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia | journal = The Journal of Pediatrics | volume = 160 | issue = 4 | pages = 679–683.e2 | date = April 2012 | pmid = 22050868 | doi = 10.1016/j.jpeds.2011.09.019 }}
9. ^{{cite journal | vauthors = Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S | title = Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 | journal = European Journal of Human Genetics | volume = 19 | issue = 1 | pages = 18–22 | date = January 2011 | pmid = 20717171 | doi = 10.1038/ejhg.2010.136 | pmc=3039503}}
10. ^{{cite journal | vauthors = Banka S, Newman WG, Ozgül RK, Dursun A | title = Mutations in the G6PC3 gene cause Dursun syndrome | journal = American Journal of Medical Genetics. Part A | volume = 152A | issue = 10 | pages = 2609–11 | date = October 2010 | pmid = 20799326 | doi = 10.1002/ajmg.a.33615 }}

Function

Clinical significance

References

Further reading