Severe congenital neutropenia type 4 (G6PC3)

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).

Summary from Reactome (R-HSA-3282872), read 2026-09-23.