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Protein-coding gene in the species Homo sapiens
Glucose-6-phosphatase 2 is an enzyme that in humans is encoded by the G6PC2 gene .[ 5] [ 6] [ 7]
This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined.[ 7]
^ a b c ENSG00000152254 GRCh38: Ensembl release 89: ENSG00000278373, ENSG00000152254 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005232 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Arden SD, Zahn T, Steegers S, Webb S, Bergman B, O'Brien RM, Hutton JC (Mar 1999). "Molecular cloning of a pancreatic islet-specific glucose-6-phosphatase catalytic subunit-related protein". Diabetes . 48 (3): 531–42. doi :10.2337/diabetes.48.3.531 . PMID 10078553 .
^ Ebert DH, Bischof LJ, Streeper RS, Chapman SC, Svitek CA, Goldman JK, Mathews CE, Leiter EH, Hutton JC, O'Brien RM (Mar 1999). "Structure and promoter activity of an islet-specific glucose-6-phosphatase catalytic subunit-related gene". Diabetes . 48 (3): 543–51. doi :10.2337/diabetes.48.3.543 . PMID 10078554 .
^ a b "G6PC2 glucose-6-phosphatase catalytic subunit 2 [Homo sapiens (human)] - Gene - NCBI" . www.ncbi.nlm.nih.gov . Retrieved 2024-01-22 .
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Li DZ, Liao C, Tang XW (2007). "Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene". Prenat. Diagn . 27 (7): 685–6. doi :10.1002/pd.1764 . PMID 17607665 . S2CID 9052649 .