Aliases for G6PC3 Gene
External Ids for G6PC3 Gene
Previous GeneCards Identifiers 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for G6PC3 Gene
G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and PI3K-Akt signaling pathway. Gene Ontology (GO) annotations related to this gene include glucose-6-phosphatase activity. An important paralog of this gene is G6PC2.
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.