G6PC3: Difference between revisions
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'''Glucose-6-phosphatase 3''', also known as '''glucose-6-phosphatase beta''', is an [[enzyme]] that in humans is encoded by the ''G6PC3'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: glucose 6 phosphatase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=92579| accessdate = }}</ref><ref name="pmid12370122">{{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 }}</ref><ref name="pmid12965222">{{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 = | '''Glucose-6-phosphatase 3''', also known as '''glucose-6-phosphatase beta''', is an [[enzyme]] that in humans is encoded by the ''G6PC3'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: glucose 6 phosphatase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=92579| accessdate = }}</ref><ref name="pmid12370122">{{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 }}</ref><ref name="pmid12965222">{{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 }}</ref> | ||
== Function == | == Function == | ||
| Line 8: | Line 8: | ||
== Clinical significance == | == Clinical significance == | ||
Mutations in this gene result in autosomal recessive severe congenital [[neutropenia]].<ref>{{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 }}</ref> | Mutations in this gene result in autosomal recessive severe congenital [[neutropenia]].<ref>{{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}}</ref> | ||
G6PC3 deficiency results in a phenotypic continuum.<ref>{{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}}</ref> <ref>{{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 }}</ref> 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''.<ref>{{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 }}</ref> Most affected individuals have a ''classic form'' of the disease with severe congenital neutropenia and cardiovascular and/or urogenital abnormalities.<ref>{{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 }}</ref><ref>{{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 }}</ref> 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]].<ref>{{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 }}</ref> | G6PC3 deficiency results in a phenotypic continuum.<ref>{{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}}</ref> <ref>{{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}}</ref> 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''.<ref>{{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 }}</ref> Most affected individuals have a ''classic form'' of the disease with severe congenital neutropenia and cardiovascular and/or urogenital abnormalities.<ref>{{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 }}</ref><ref>{{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}}</ref> 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]].<ref>{{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 }}</ref> | ||
{{clear}} | {{clear}} | ||
== References == | == References == | ||
Latest revision as of 12:04, 5 March 2018
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| External IDs | GeneCards: [1] | ||||||
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| Location (UCSC) | n/a | n/a | |||||
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| Wikidata | |||||||
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Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene.[1][2][3]
Function
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
- ↑ 1.0 1.1 "Entrez Gene: glucose 6 phosphatase".
- ↑ Martin CC, Oeser JK, Svitek CA, Hunter SI, Hutton JC, O'Brien RM (October 2002). "Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein". Journal of Molecular Endocrinology. 29 (2): 205–22. doi:10.1677/jme.0.0290205. PMID 12370122.
- ↑ Guionie O, Clottes E, Stafford K, Burchell A (September 2003). "Identification and characterisation of a new human glucose-6-phosphatase isoform". FEBS Letters. 551 (1–3): 159–64. doi:10.1016/S0014-5793(03)00903-7. PMID 12965222.
- ↑ Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, et al. (January 2009). "A syndrome with congenital neutropenia and mutations in G6PC3". The New England Journal of Medicine. 360 (1): 32–43. doi:10.1056/NEJMoa0805051. PMC 2778311. PMID 19118303.
- ↑ Banka, Siddharth. "G6PC3 Deficiency". GeneReviews(®). University of Washington, Seattle.
- ↑ Banka S, Newman WG (June 2013). "A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations". Orphanet Journal of Rare Diseases. 8: 84. doi:10.1186/1750-1172-8-84. PMC 3718741. PMID 23758768.
- ↑ Banka S, Wynn R, Byers H, Arkwright PD, Newman WG (February 2013). "G6PC3 mutations cause non-syndromic severe congenital neutropenia". Molecular Genetics and Metabolism. 108 (2): 138–41. doi:10.1016/j.ymgme.2012.12.001. PMID 23298686.
- ↑ Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, et al. (April 2012). "Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia". The Journal of Pediatrics. 160 (4): 679–683.e2. doi:10.1016/j.jpeds.2011.09.019. PMID 22050868.
- ↑ Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S (January 2011). "Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3". European Journal of Human Genetics. 19 (1): 18–22. doi:10.1038/ejhg.2010.136. PMC 3039503. PMID 20717171.
- ↑ Banka S, Newman WG, Ozgül RK, Dursun A (October 2010). "Mutations in the G6PC3 gene cause Dursun syndrome". American Journal of Medical Genetics. Part A. 152A (10): 2609–11. doi:10.1002/ajmg.a.33615. PMID 20799326.
Further reading
- Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K (July 2010). "Digenic mutations in severe congenital neutropenia". Haematologica. 95 (7): 1207–10. doi:10.3324/haematol.2009.017665. PMC 2895047. PMID 20220065.
- Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J (May 2009). "Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians". Neuromuscular Disorders. 19 (5): 330–4. doi:10.1016/j.nmd.2008.01.007. PMID 18337100.
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