Severe congenital neutropenia type 4 (G6PC3)

Stable Identifier
R-HSA-3282872
Type
Pathway
Species
Homo sapiens
Synonyms
SCN4
ReviewStatus
5/5
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Severe congenital neutropenia type 4 (G6PC3)
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Glucose-6-phosphatase 3 (G6PC3) associated with the endoplasmic reticulum membrane normally catalyzes the hydrolysis of glucose-6-phosphate to glucose and orthophosphate. In the body, this enzyme is ubiquitously expressed; mutations that inactivate it are associated with severe congenital neutropenia (but not with fasting hypoglycemia or lactic acidemia) (Boztug et al. 2009, 2012).
Literature References
PubMed ID Title Journal Year
19118303 A syndrome with congenital neutropenia and mutations in G6PC3

Klein, C, Kratz, C, Salzer, U, Brandes, G, Mönkemöller, K, Germeshausen, M, Lee-Gossler, J, Bellanné-Chantelot, C, Appaswamy, G, Minkov, M, Greil, J, Zeidler, C, Irani-Hakimeh, N, Boztug, K, Welte, K, Rezaei, N, Gatzke, AK, Petropoulou, T, Gerardy-Schahn, R, Schäffer, AA, Grimbacher, B, Noyan, F, Pellier, I, Diestelhorst, J, Bakker, H, Ashikov, A

N. Engl. J. Med. 2009
22050868 Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

Buchanan, GR, Klein, C, Curtin, J, Fruge, R, Parvaneh, N, Innis, JW, Dorda, M, Mody, R, Moulton, T, Newman, WG, Darbyshire, P, Corns, J, Boztug, K, Welte, K, Donadieu, J, Rezaei, N, Rosenberg, PS, Pierani, P, Tran, HC, Avci, Z, Mamishi, S, Motwani, J, Alter, BP, Boxer, LA, Murray, J, Pellier, I, Banka, S

J. Pediatr. 2012
Participants
Events
Participates
as an event of
Disease
Authored
D'Eustachio, P  (2013-07-19)
Reviewed
Jassal, B  (2015-08-17)
Created
D'Eustachio, P  (2013-04-12)
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