NP_612396.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
38,735 Da
NCBI Official Full Name
glucose-6-phosphatase 3
NCBI Official Synonym Full Names
glucose 6 phosphatase, catalytic, 3
NCBI Official Synonym Symbols
NCBI Protein Information
glucose-6-phosphatase 3; G6Pase 3; G-6-Pase 3; G6Pase-beta; glucose-6-phosphatase catalytic subunit 3; ubiquitously expressed G6Pase catalytic subunit-related protein; ubiquitous glucose-6-phosphatase catalytic subunit-related protein
UniProt Protein Name
Glucose-6-phosphatase 3
UniProt Synonym Protein Names
Glucose-6-phosphatase beta; G6Pase-beta; Ubiquitous glucose-6-phosphatase catalytic subunit-related protein
UniProt Synonym Gene Names
UniProt Entry Name
G6PC3_HUMAN
NCBI Summary for G6PC3
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]
UniProt Comments for G6PC3
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, multi-pass; Membrane protein, integral; Transporter, SLC family; EC 3.1.3.9; Phosphatase (non-protein)
Chromosomal Location of Human Ortholog: 17q21.31
Cellular Component: endoplasmic reticulum membrane; membrane; integral to membrane
Molecular Function: glucose-6-phosphatase activity
Biological Process: dephosphorylation; glucose-6-phosphate transport; hexose transport; carbohydrate metabolic process; glucose 6-phosphate metabolic process; pathogenesis; glucose transport; transmembrane transport; gluconeogenesis
Disease: Neutropenia, Severe Congenital, 4, Autosomal Recessive
Research Articles on G6PC3
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Products associated with G6PC3 elisa kit
Pathways associated with G6PC3 elisa kit
Diseases associated with G6PC3 elisa kit
Organs/Tissues associated with G6PC3 elisa kit
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