Aliases for G6PC3 Gene
External Ids for G6PC3 Gene
This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein.[provided by RefSeq, Sep 2009]
GeneCards Summary for G6PC3 Gene
G6PC3 (Glucose 6 Phosphatase, Catalytic, 3) is a Protein Coding gene. Diseases associated with G6PC3 include neutropenia, severe congenital 4, autosomal recessive and severe congenital neutropenia. Among its related pathways are PI3K-Akt signaling pathway and Metabolism. GO annotations related to this gene include glucose-6-phosphatase activity. An important paralog of this gene is G6PC.
UniProtKB/Swiss-Prot for G6PC3 Gene
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function.