Glucose-6-phosphatase 3 , also known as glucose-6-phosphatase beta , is an enzyme that in humans is encoded by the G6PC3 gene .[ 5] [ 6] [ 7]
Clinical significance
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Mutations in this gene result in autosomal recessive severe congenital neutropenia .[ 8]
G6PC3 deficiency results in a phenotypic continuum.[ 9] [ 10] non-syndromic or isolated severe congenital neutropenia .[ 11] classic form of the disease with severe congenital neutropenia and cardiovascular and/or urogenital abnormalities.[ 12] [ 13] 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 .[ 14]
1 2 3 GRCh38: Ensembl release 89: ENSG00000141349 – Ensembl , May 20171 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034793 – Ensembl , May 2017↑ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .↑ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .1 2 "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. Bibcode :2003FEBSL.551..159G . doi :10.1016/S0014-5793(03)00903-7 PMID 12965222 . S2CID 38286129 . ↑ 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 (1993). "G6PC3 Deficiency". GeneReviews PMID 25879134 . ↑ 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 . S2CID 4151265 .
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 . S2CID 12780335 .
