Glucose-6-phosphatase catalytic subunit 3 (G6PC3)

Glucose-6-phosphatase catalytic subunit 3 (G6PC3) is an integral membrane enzyme localized in the endoplasmic reticulum, where it catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate—the final reaction in gluconeogenesis and glycogenolysis. Unlike the liver-predominant G6PC isoforms, G6PC3 is expressed ubiquitously and is essential for normal glucose metabolism and neutrophil function. Mutations in the G6PC3 gene cause autosomal recessive severe congenital neutropenia, sometimes with syndromic features including cardiovascular and urogenital anomalies. There are no approved drugs that directly target G6PC3, but its mutation is diagnostic for specific congenital disorders. Loss of function can cause life-threatening metabolic and immune consequences through disruption of cellular glucose production and neutrophil viability.

Other names

Glucose-6-phosphatase 3Glucose-6-phosphatase betaG6Pase 3G6Pase-betaUbiquitous glucose-6-phosphatase catalytic subunit-related protein (UGRP)SCN4Ubiquitously expressed G6Pase catalytic subunit-related protein

N/A (no specific targeted therapies at present)