Biology:G6PC3
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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". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=92579.
- ↑ "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. October 2002. doi:10.1677/jme.0.0290205. PMID 12370122.
- ↑ "Identification and characterisation of a new human glucose-6-phosphatase isoform". FEBS Letters 551 (1–3): 159–64. September 2003. doi:10.1016/S0014-5793(03)00903-7. PMID 12965222.
- ↑ "A syndrome with congenital neutropenia and mutations in G6PC3". The New England Journal of Medicine 360 (1): 32–43. January 2009. doi:10.1056/NEJMoa0805051. PMID 19118303.
- ↑ Banka, Siddharth (1993). "G6PC3 Deficiency". GeneReviews. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK285321/.
- ↑ "A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations". Orphanet Journal of Rare Diseases 8: 84. June 2013. doi:10.1186/1750-1172-8-84. PMID 23758768.
- ↑ "G6PC3 mutations cause non-syndromic severe congenital neutropenia". Molecular Genetics and Metabolism 108 (2): 138–41. February 2013. doi:10.1016/j.ymgme.2012.12.001. PMID 23298686.
- ↑ "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. April 2012. doi:10.1016/j.jpeds.2011.09.019. PMID 22050868.
- ↑ "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. January 2011. doi:10.1038/ejhg.2010.136. PMID 20717171.
- ↑ "Mutations in the G6PC3 gene cause Dursun syndrome". American Journal of Medical Genetics. Part A 152A (10): 2609–11. October 2010. doi:10.1002/ajmg.a.33615. PMID 20799326.
Further reading
- "Digenic mutations in severe congenital neutropenia". Haematologica 95 (7): 1207–10. July 2010. doi:10.3324/haematol.2009.017665. PMID 20220065.
- "Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians". Neuromuscular Disorders 19 (5): 330–4. May 2009. doi:10.1016/j.nmd.2008.01.007. PMID 18337100.
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