Severe congenital neutropenia type 4 (G6PC3)

Stable Identifier
R-HSA-3282872
Type
Pathway
Species
Homo sapiens
Synonyms
SCN4
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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
22050868 Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

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

J. Pediatr. 2012
19118303 A syndrome with congenital neutropenia and mutations in G6PC3

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

N. Engl. J. Med. 2009
Participants
Participant Of
Disease
Name Identifier Synonyms
severe congenital neutropenia 0050590
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