G6PC3 Antibody – Rabbit Polyclonal

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]

G6PC3: 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. Defects in G6PC3 are the cause of neutropenia severe congenital autosomal recessive type 4 (SCN4). Autosomal recessive SCN constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells. Individuals show a paucity of mature neutrophils in peripheral blood and bone marrow and develop life-threatening bacterial infections. SCN4 is a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations. Defects in G6PC3 are the cause of Dursun syndrome (DURSS). A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia. Belongs to the glucose-6-phosphatase family.

Protein type: Transporter; Membrane protein, integral; EC 3.1.3.9; Phosphatase (non-protein); Transporter, SLC family; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 17q21.31

Cellular Component: endoplasmic reticulum membrane; integral to endoplasmic reticulum membrane; membrane

Molecular Function: glucose-6-phosphatase activity

Biological Process: dephosphorylation; gluconeogenesis; glucose 6-phosphate metabolic process; glucose transport; glucose-6-phosphate transport

Disease: Neutropenia, Severe Congenital, 4, Autosomal Recessive